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Sample records for preimplantation period days

  1. Prenatal deaths and external malformations caused by x-irradiation during the preimplantation period of ddy mice

    International Nuclear Information System (INIS)

    Ro, Hee Jeong; Choi, Ihl Bhong; Gu, Yeun Wha

    1998-01-01

    To evaluate the effects of x-irradiation on prenatal deaths, i.e., preimplantation deaths. embryonic deaths, and fetal deaths, and on external malformations in precompacted preimplantation ddy mice. Pregnant mice (n=85), obtained by limiting the mating time to from 6 to 9 A.M., were segregated into 11 groups, The first five groups (n=26) were irradiated with X-ray doses of 0.1, 0.5, 0.75, 1.5, and 3 Gy, respectively, at 24 h post conception (p.c.) of the preimplantation period. The second five (n=27) groups were irradiated at the same X-ray doses, respectively, but at 48 h p.c. of the preimplantation period. The last group (n=32) was the control group. The uterine contents were examined on the 18th day of gestation for prenatal deaths and external malformations. 1) A statistically significant increase in preimplantation deaths with increasing dose was observed in the experimental groups irradiated at 24 h p.c. and in the groups irradiated at 48 h p.c., as compared to the control group. The threshold dose was close to 0.05 Gy and 0.075 Gy for the irradiations at 24 h p.c. and 48 h p.c. respectively. 2) A statistically significant increase in embryonic deaths with increasing dose was observed in all irradiation groups, except the group irradiated with a dose of 0,1 Gy at 48 h p.c.. 3) No fetal deaths were found in any experimental group. 4) In the experimental groups irradiated at 24 h p.c., anomalies increased with statistical significance, as compared with the control group: 2 exencephalies, 2 open eyelids,' 3 anophthalmias, 2 cleft palates. 2 gastroschisis, 1 abdominal wall defect. 1 leg defect, and 2 short tail anomalies; the threshold dose for external malformations was close to 0.2 Gy at 24 h p.c.. In the groups irradiated at 48 h p.c., 1 open eyelid and 2 short tail anomalies were observed, but there was no statistical significance in those malformations. The results of this study reveal that x-irradiation of precompacted preimplantation ddy mice causes not

  2. [Current options of preimplantion genetic screening and preimplantation genetic diagnostics].

    Science.gov (United States)

    Šimečková, V

    The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. A review article. Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

  3. Preimplantation genetic diagnosis and screening by array comparative genomic hybridisation: experience of more than 100 cases in a single centre.

    Science.gov (United States)

    Chow, J Fc; Yeung, W Sb; Lee, V Cy; Lau, E Yl; Ho, P C; Ng, E Hy

    2017-04-01

    Preimplantation genetic screening has been proposed to improve the in-vitro fertilisation outcome by screening for aneuploid embryos or blastocysts. This study aimed to report the outcome of 133 cycles of preimplantation genetic diagnosis and screening by array comparative genomic hybridisation. This study of case series was conducted in a tertiary assisted reproductive centre in Hong Kong. Patients who underwent preimplantation genetic diagnosis for chromosomal abnormalities or preimplantation genetic screening between 1 April 2012 and 30 June 2015 were included. They underwent in-vitro fertilisation and intracytoplasmic sperm injection. An embryo biopsy was performed on day-3 embryos and the blastomere was subject to array comparative genomic hybridisation. Embryos with normal copy numbers were replaced. The ongoing pregnancy rate, implantation rate, and miscarriage rate were studied. During the study period, 133 cycles of preimplantation genetic diagnosis for chromosomal abnormalities or preimplantation genetic screening were initiated in 94 patients. Overall, 112 cycles proceeded to embryo biopsy and 65 cycles had embryo transfer. The ongoing pregnancy rate per transfer cycle after preimplantation genetic screening was 50.0% and that after preimplantation genetic diagnosis was 34.9%. The implantation rates after preimplantation genetic screening and diagnosis were 45.7% and 41.1%, respectively and the miscarriage rates were 8.3% and 28.6%, respectively. There were 26 frozen-thawed embryo transfer cycles, in which vitrified and biopsied genetically transferrable embryos were replaced, resulting in an ongoing pregnancy rate of 36.4% in the screening group and 60.0% in the diagnosis group. The clinical outcomes of preimplantation genetic diagnosis and screening using comparative genomic hybridisation in our unit were comparable to those reported internationally. Genetically transferrable embryos replaced in a natural cycle may improve the ongoing pregnancy rate

  4. Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles.

    Science.gov (United States)

    Łukaszuk, Krzysztof; Pukszta, Sebastian; Wells, Dagan; Cybulska, Celina; Liss, Joanna; Płóciennik, Łukasz; Kuczyński, Waldemar; Zabielska, Judyta

    2015-04-01

    To determine the usefulness of semiconductor-based next-generation sequencing (NGS) for cleavage-stage preimplantation genetic diagnosis (PGD) of aneuploidy. Prospective case-control study. A private center for reproductive medicine. A total of 45 patients underwent day-3 embryo biopsy with PGD and fresh cycle transfer. Additionally, 53 patients, matched according to age, anti-Müllerian hormone levels, antral follicles count, and infertility duration were selected as controls. Choice of embryos for transfer was based on the PGD NGS results. Clinical pregnancy rate (PR) per embryo transfer (ET) was the primary outcome. Secondary outcomes were implantation and miscarriage rates. The PR per transfer was higher in the NGS group (84.4% vs. 41.5%). The implantation rate (61.5% vs. 34.8%) was higher in the NGS group. The miscarriage rate was similar in the 2 groups (2.8% vs. 4.6%). We demonstrate the technical feasibility of NGS-based PGD involving cleavage-stage biopsy and fresh ETs. Encouraging data were obtained from a prospective trial using this approach, arguing that cleavage-stage NGS may represent a valuable addition to current aneuploidy screening methods. These findings require further validation in a well-designed randomized controlled trial. ACTRN12614001035617. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Light, electron microscopic and immunohistochemical study of the effect of low-dose aspirin during the proestrus phase on rat endometrium in the preimplantation period.

    Science.gov (United States)

    Ateş, Utku; Baka, Meral; Turgut, Mehmet; Uyanikgil, Yiğit; Ulker, Sibel; Yilmaz, Ozlem; Tavmergen, Erol; Yurtseven, Mine

    2007-04-01

    To evaluate structural alterations in rat endometrium at preimplantation following treatment with aspirin beginning from proestrus by light microscopy, electron microscopy and immunohistochemical techniques. Twenty rats were divided into control (n = 10) and experimental (n = 10) groups. Experimental rats were treated with low-dose aspirin daily (2 mg/kg/day) during estrus, beginning from the proestrus phase, mated at end of cycle and treated with aspirin. Untreated pregnant rats were the control group. Rats in both groups were sacrificed at the 84th pregnancy hour; the uterus was rapidly removed and dissected free of surrounding adipose tissue. Uteri specimens from nonpregnant rats were transferred into fixative solution and processed for light, electron microscopic and immunohistochemical study. Light and electron microscopy of endometrium from control rats conformed to mid-diestrus phase; endometrial histology of the aspirin-treated group conformed to late diestrus phase. The endometrial layer was significantly thicker in the aspirin-treated group compared to the untreated control group (p <0.001). No significant difference was found in vessel number between groups. Staining with alphaV integrin was more dense in the aspirin-treated group. Based on histologic findings, we suggest low-dose aspirin has positive effects on preparing endometrium before implantation.

  7. Whole Genome Amplification of Day 3 or Day 5 Human Embryos Biopsies Provides a Suitable DNA Template for PCR-Based Techniques for Genotyping, a Complement of Preimplantation Genetic Testing

    Directory of Open Access Journals (Sweden)

    Elizabeth Schaeffer

    2017-01-01

    Full Text Available Our objective was to determine if whole genome amplification (WGA provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3 or trophoblastic cells (Day 5 were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo’s sex, qPCR melting curve analysis for SRY and DYS14 was used. Logistic regression indicated a 4.4%, 57.1%, or 98.8% probability of a male embryo when neither gene, SRY only, or both genes were detected, respectively (accuracy = 94.1%, kappa = 0.882, and p<0.001. Fluorescent Capillary Electrophoresis for the amelogenin genes (AMEL was also used to determine sex. AMELY peak’s height was higher and this peak’s presence was highly predictive of male embryos (AUC = 0.93, accuracy = 81.7%, kappa = 0.974, and p<0.001. Trisomy 18 and Trisomy 21 were determined using the threshold cycle difference for RPL17 and TTC3, respectively, which were significantly lower in the corresponding embryos. The Ct difference for TTC3 specifically determined Trisomy 21 (AUC = 0.89 and RPL17 for Trisomy 18 (AUC = 0.94. Here, WGA provides adequate DNA for PCR-based techniques for preimplantation genotyping.

  8. Long-Period Tidal Variations in the Length of Day

    Science.gov (United States)

    Ray, Richard D.; Erofeeva, Svetlana Y.

    2014-01-01

    A new model of long-period tidal variations in length of day is developed. The model comprises 80 spectral lines with periods between 18.6 years and 4.7 days, and it consistently includes effects of mantle anelasticity and dynamic ocean tides for all lines. The anelastic properties followWahr and Bergen; experimental confirmation for their results now exists at the fortnightly period, but there remains uncertainty when extrapolating to the longest periods. The ocean modeling builds on recent work with the fortnightly constituent, which suggests that oceanic tidal angular momentum can be reliably predicted at these periods without data assimilation. This is a critical property when modeling most long-period tides, for which little observational data exist. Dynamic ocean effects are quite pronounced at shortest periods as out-of-phase rotation components become nearly as large as in-phase components. The model is tested against a 20 year time series of space geodetic measurements of length of day. The current international standard model is shown to leave significant residual tidal energy, and the new model is found to mostly eliminate that energy, with especially large variance reduction for constituents Sa, Ssa, Mf, and Mt.

  9. Preimplantation genetic diagnosis

    DEFF Research Database (Denmark)

    Bay, Bjorn; Ingerslev, Hans Jakob; Lemmen, Josephine Gabriela

    2016-01-01

    OBJECTIVE: To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI). DESIGN...

  10. Preimplantation genetic screening.

    Science.gov (United States)

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  11. Automating Partial Period Bond Valuation with Excel's Day Counting Functions

    Science.gov (United States)

    Vicknair, David; Spruell, James

    2009-01-01

    An Excel model for calculating the actual price of bonds under a 30 day/month, 360 day/year day counting assumption by nesting the DAYS360 function within the PV function is developed. When programmed into an Excel spreadsheet, the model can accommodate annual and semiannual payment bonds sold on or between interest dates using six fundamental…

  12. Technical Update: Preimplantation Genetic Diagnosis and Screening.

    Science.gov (United States)

    Dahdouh, Elias M; Balayla, Jacques; Audibert, François; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Chong, Karen; Gagnon, Alain; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallée-Pouliot, Karine

    2015-05-01

    genetic diagnosis in couples carrying chromosomal translocations is recommended because it is associated with favourable clinical outcomes. (II-2B) 7. Before preimplantation genetic screening is performed, thorough education and counselling must be provided by a certified genetic counsellor to ensure that patients fully understand the limitations of the technique, the risk of error, and the ongoing debate on whether preimplantation genetic screening is necessary to improve live birth rates with in vitro fertilization. (III-A) 8. Preimplantation genetic screening using fluorescence in situ hybridization technology on day-3 embryo biopsy is associated with decreased live birth rates and therefore should not be performed with in vitro fertilization. (I-E) 9. Preimplantation genetic screening using comprehensive chromosome screening technology on blastocyst biopsy, increases implantation rates and improves embryo selection in IVF cycles in patients with a good prognosis. (I-B).

  13. Economic comparison of a sixty day dry period with no dry period on Dutch dairy farms

    NARCIS (Netherlands)

    Heeren, J.A.H.; Steeneveld, W.; Berentsen, P.B.M.

    2014-01-01

    In the Netherlands it is general practice that dairy cows have a dry period of six to eight weeks. Research, however, shows that omission of the dry period avoids the negative energy balance after calving with its potential negative effects on metabolic disorders, infectious diseases, and fertility.

  14. ANOVA Analysis of Student Daily Test Scores in Multi-Day Test Periods

    Science.gov (United States)

    Mouritsen, Matthew L.; Davis, Jefferson T.; Jones, Steven C.

    2016-01-01

    Instructors are often concerned when giving multiple-day tests because students taking the test later in the exam period may have an advantage over students taking the test early in the exam period due to information leakage. However, exam scores seemed to decline as students took the same test later in a multi-day exam period (Mouritsen and…

  15. Vitrified/warmed single blastocyst transfer in preimplantation genetic diagnosis/preimplantation genetic screening cycles.

    Science.gov (United States)

    Huang, Jin; Li, Rong; Lian, Ying; Chen, Lixue; Shi, Xiaodan; Qiao, Jie; Liu, Ping

    2015-01-01

    To investigate the single blastocyst transfer in preimplantation genetic diagnosis (PGD)/preimplantation genetic screening (PGS) cycles. 80 PGD/PGS cycles undergoing blastocyst biopsy were studied. There were 88 warming cycles during the study period. Only one warmed blastocyst was transferred per cycle. The outcomes were followed up to the infants were born. The embryo implantation rate was 54.55% (48/88). The clinical pregnancy rate was 54.55% (48/88) per transfer cycle and 60% (48/80) per initial PGD/PGS cycle. There was no multi-pregnant in this study. The live birth rate was 42.05% (37/88) per transfer cycle and 46.25% (37/80) per initial PGD/PGS cycle. In PGD/PGS cycles, single blastocyst transfer reduces the multiple pregnancy rate without affecting the clinical outcomes.

  16. Evidence for an approx.300 day period in Cygnus X-1

    International Nuclear Information System (INIS)

    Priedhorsky, W.C.; Terrell, J.; Holt, S.S.

    1983-01-01

    We present the time history of X-ray emission from Cyg X-1 over an 11 year period, with 10 day resolution. The data were obtained by experiments on the Vela 5B (1969--1979) and Ariel 5 (1974--1980) satellites. Cyg X-1 varies by approx.25% with a 294 +- 4 day period. This modulation is apparently unrelated to the known transitions between the source high and low states. Flux minima occur at 1974.05+nP. The observed period is within the possible range for the precession period of an accretion disk, or of the companion star HDE 226868, in the Cyg X-1 system

  17. What next for preimplantation genetic screening? A polar body approach!

    NARCIS (Netherlands)

    Geraedts, Joep; Collins, John; Gianaroli, Luca; Goossens, Veerle; Handyside, Alan; Harper, Joyce; Montag, Markus; Repping, Sjoerd; Schmutzler, Andreas

    2010-01-01

    Screening of human preimplantation embryos for numerical chromosome abnormalities has been conducted mostly at the preimplantation stage using fluorescence in situ hybridization. However, it is clear that preimplantation genetic screening (PGS) as it is currently practiced does not improve live

  18. A 20-day period standing oscillation in the northern winter stratosphere

    Directory of Open Access Journals (Sweden)

    K. Hocke

    2013-04-01

    Full Text Available Observations of the ozone profile by a ground-based microwave radiometer in Switzerland indicate a dominant 20-day oscillation in stratospheric ozone, possibly related to oscillations of the polar vortex edge during winter. For further understanding of the nature of the 20-day oscillation, the ozone data set of ERA Interim meteorological reanalysis is analyzed at the latitude belt of 47.5° N and in the time from 1979 to 2010. Spectral analysis of ozone time series at 7 hPa indicates that the 20-day oscillation is maximal at two locations: 7.5° E, 47.5° N and 60° E, 47.5° N. Composites of the stream function are derived for different phases of the 20-day oscillation of stratospheric ozone at 7 hPa in the Northern Hemisphere. The streamline at Ψ = −2 × 107 m2 s−1 is in the vicinity of the polar vortex edge. The other streamline at Ψ = 4 × 107 m2 s1 surrounds the Aleutian anticyclone and goes to the subtropics. The composites show 20-day period standing oscillations at the polar vortex edge and in the subtropics above Northern Africa, India, and China. The 20-day period standing oscillation above Aral Sea and India is correlated to the strength of the Aleutian anticyclone.

  19. Study of 23 day periodicity of Blazar Mkn501 in 1997

    Science.gov (United States)

    Osone, S.

    2006-10-01

    We confirm a 23 day periodicity during a large flare in 1997 for X-ray data of X-ray satellite RXTE all sky monitor (ASM), 2 TeV gamma ray data from Utah Seven Telescope and HEGRA, with a Fourier analysis. We found the three results to be the same with a newly estimated error. We confirm the presence of a frequency dependent power (1/ f noise) in a frequency-power diagram. Further, we calculated a chance probability of the occurrence of the 23 day periodicity by considering the 1/ f noise and obtained a chance probability 4.88 × 10 -3 for the HEGRA data: this is more significant than the previous result by an order. We also obtained an indentical periodicity with another kind of timing analysis-epoch folding method for the ASM data and HEGRA data. We strongly suggest an existence of the periodicity. We divided the HEGRA data into two data sets, analyzed them with a Fourier method, and found an unstableness of the periodicity with a 3.4 sigma significance. We also analyzed an energy spectra of the X-ray data of a RXTE proportional counter array and we found that a combination of three physical parameters—a magnetic field, a Lorentz factor, and a beaming factor—is related to the periodicity.

  20. Cultures of preimplantation mouse embryos

    International Nuclear Information System (INIS)

    Streffer, C.; Molls, M.

    1987-01-01

    In the preimplantation mouse embryos the chromosomal damage develops through several postradiation cell cycles and mitoses. New chromosome aberrations are seen during the second and third postradiation mitoses. Also, more micronuclei appear during later postradiation interphases. This is in agreement with the assumption that unrepaired chromosomal radiation damage develops during the cell generation cycle to such a form (i.e. double-strand breaks in DNA) that chromosomal breaks occur. This proposition is strengthened by the observation that radiation-induced damage is more rapidly expressed after neutron exposure (first or second postradiation mitosis) than after exposure to X rays at the one- or two-cell stage. The preimplantation mouse embryo culture is an inviting system for additional studies at the molecular level, especially now that within the last few years more sensitive methods have been developed for study of DNA and protein structure, regulation, and synthesis. The results from these studies of cultures of preimplantation mouse embryos present a favorable case for the study of complex biological systems under very defined conditions in vitro for extrapolation to effects in vivo

  1. Transcriptomic changes in the pre-implantation uterus highlight histotrophic nutrition of the developing marsupial embryo.

    Science.gov (United States)

    Whittington, Camilla M; O'Meally, Denis; Laird, Melanie K; Belov, Katherine; Thompson, Michael B; McAllan, Bronwyn M

    2018-02-05

    Early pregnancy is a critical time for successful reproduction; up to half of human pregnancies fail before the development of the definitive chorioallantoic placenta. Unlike the situation in eutherian mammals, marsupial pregnancy is characterised by a long pre-implantation period prior to the development of the short-lived placenta, making them ideal models for study of the uterine environment promoting embryonic survival pre-implantation. Here we present a transcriptomic study of pre-implantation marsupial pregnancy, and identify differentially expressed genes in the Sminthopsis crassicaudata uterus involved in metabolism and biosynthesis, transport, immunity, tissue remodelling, and uterine receptivity. Interestingly, almost one quarter of the top 50 genes that are differentially upregulated in early pregnancy are putatively involved in histotrophy, highlighting the importance of nutrient transport to the conceptus prior to the development of the placenta. This work furthers our understanding of the mechanisms underlying survival of pre-implantation embryos in the earliest live bearing ancestors of mammals.

  2. 27 CFR 70.146 - 45-day period for making disbursements.

    Science.gov (United States)

    2010-04-01

    ... tax lien filing, to the lien imposed by 26 U.S.C. 6321 if, and to the extent, a right to payment has... Collection of Excise and Special (Occupational) Tax Lien for Taxes § 70.146 45-day period for making disbursements. Even though a notice of a lien imposed by 26 U.S.C. 6321 is filed in accordance with § 70.149 of...

  3. Quasi-16-day period oscillations observed in middle atmospheric ozone and temperature in Antarctica

    Energy Technology Data Exchange (ETDEWEB)

    Demissie, T.D.; Hibbins, R.E.; Espy, P.J. [Norwegian Univ. of Science and Technology (NTNU), Trondheim (Norway); Birkeland Centre for Space Science, Bergen (Norway); Kleinknecht, N.H.; Straub, C. [Norwegian Univ. of Science and Technology (NTNU), Trondheim (Norway)

    2013-09-01

    Nightly averaged mesospheric temperature derived from the hydroxyl nightglow at Rothera station (67 34' S, 68 08' W) and nightly midnight measurements of ozone mixing ratio obtained from Troll station (72 01' S, 2 32' E) in Antarctica have been used to investigate the presence and vertical profile of the quasi-16-day planetary wave in the stratosphere and mesosphere during the Antarctic winter of 2009. The variations caused by planetary waves on the ozone mixing ratio and temperature are discussed, and spectral and cross-correlation analyses are performed to extract the wave amplitudes and to examine the vertical structure of the wave from 34 to 80 km. The results show that while planetary-wave signatures with periods 3-12 days are strong below the stratopause, the oscillations associated with the 16-day wave are the strongest and present in both the mesosphere and stratosphere. The period of the wave is found to increase below 42 km due to the Doppler shifting by the strong eastward zonal wind. The 16-day oscillation in the temperature is found to be correlated and phase coherent with the corresponding oscillation observed in O{sub 3} volume mixing ratio at all levels, and the wave is found to have vertical phase fronts consistent with a normal mode structure. (orig.)

  4. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

    Science.gov (United States)

    Chen, Chun-Kai; Yu, Hsing-Tse; Soong, Yung-Kuei; Lee, Chyi-Long

    2014-06-01

    Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH) has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows the haplotype of

  5. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Chun-Kai Chen

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

  6. [Unaffected child born following preimplantation genetic diagnosis with karyomapping].

    Science.gov (United States)

    Nánássy, László; Téglás, Gyöngyvér; Csenki, Marianna; Vereczkey, Attila

    2016-12-01

    Preimplantation genetic diagnosis for single gene defects is a well established method in assisted reproductive technologies. Karyomapping is a genome wide parental haplotyping using a high density single nucleotide polymorphism array that allows the diagnosis of any single gene defects. A couple with an affected child with primary congenital glaucoma attended at our clinic. Six oocyte-cumulus-complex was retrieved and all three mature oocytes were inseminated. One zygote showed the signs of normal fertilization and was cultured for five days. Trophectoderm biopsy and karyomapping analysis were carried out. Result showed a heterozygous carrier for primary congenital glaucoma. Embryo was thawed and transferred and a healthy girl was delivered at term. Here we report the first live birth following in vitro fertilization combined with preimplantation genetic diagnosis using karyomapping in Hungary. Karyomapping is able to accurately detect single gene disorders from a limited amount of samples without a significant preclinical workup. Orv. Hetil., 2016, 157(51), 2048-2050.

  7. PULSATION-TRIGGERED MASS LOSS FROM AGB STARS: THE 60 DAY CRITICAL PERIOD

    International Nuclear Information System (INIS)

    McDonald, I.; Zijlstra, A. A.

    2016-01-01

    Low- and intermediate-mass stars eject much of their mass during the late, red giant branch (RGB) phase of evolution. The physics of their strong stellar winds is still poorly understood. In the standard model, stellar pulsations extend the atmosphere, allowing a wind to be driven through radiation pressure on condensing dust particles. Here, we investigate the onset of the wind, using nearby RGB stars drawn from the Hipparcos catalog. We find a sharp onset of dust production when the star first reaches a pulsation period of 60 days. This approximately coincides with the point where the star transitions to the first overtone pulsation mode. Models of the spectral energy distributions show stellar mass-loss rate suddenly increasing at this point, by a factor of ∼10 over the existing (chromospherically driven) wind. The dust emission is strongly correlated with both pulsation period and amplitude, indicating stellar pulsation is the main trigger for the strong mass loss, and determines the mass-loss rate. Dust emission does not strongly correlate with stellar luminosity, indicating radiation pressure on dust has little effect on the mass-loss rate. RGB stars do not normally appear to produce dust, whereas dust production by asymptotic giant branch stars appears commonplace, and is probably ubiquitous above the RGB-tip luminosity. We conclude that the strong wind begins with a step change in mass-loss rate and is triggered by stellar pulsations. A second rapid mass-loss-rate enhancement is suggested when the star transitions to the fundamental pulsation mode at a period of ∼300 days.

  8. Killing of preimplantation mouse embryos by main ingredients of cleansers AS and LAS

    International Nuclear Information System (INIS)

    Nomura, T.; Hata, S.; Shibata, K.; Kusafuka, T.

    1987-01-01

    When main ingredients of cleansers, alcohol sulfate (AS) and linear alkylbenzene sulfonate (LAS), were applied to the dorsal skin of pregnant JCL:ICR mice during preimplantation period, significant numbers of embryos collected from the oviducts and uteri on day 3 showed severe deformity or remained at the morula stage. Most of abnormal embryos were fragmented or remained at the 1-8 cell stages, and they were either dead or dying. Similar results were observed with commercially obtained kitchen detergent and hair shampoo. Fertilized eggs may be specifically sensitive to synthetic detergents. Very low doses of X-rays also induced significant yields of abnormal embryos. Major difference between X-rays and detergents was that X-ray-induced abnormality appeared at the morula or blastocyst stage, while detergent-induced one did at the earlier stages. (Auth.)

  9. X1908+075: An X-Ray Binary with a 4.4 Day Period

    Science.gov (United States)

    Wen, Linqing; Remillard, Ronald A.; Bradt, Hale V.

    2000-04-01

    X1908+075 is an optically unidentified and highly absorbed X-ray source that appeared in early surveys such as Uhuru, OSO 7, Ariel 5, HEAO-1, and the EXOSAT Galactic Plane Survey. These surveys measured a source intensity in the range 2-12 mcrab at 2-10 keV, and the position was localized to ~0.5d. We use the Rossi X-Ray Timing Explorer (RXTE) All-Sky Monitor (ASM) to confirm our expectation that a particular Einstein/IPC detection (1E 1908.4+0730) provides the correct position for X1908+075. The analysis of the coded mask shadows from the ASM for the position of 1E 1908.4+0730 yields a persistent intensity ~8 mcrab (1.5-12 keV) over a 3 yr interval beginning in 1996 February. Furthermore, we detect a period of 4.400+/-0.001 days with a false-alarm probability less than 10-7. The folded light curve is roughly sinusoidal, with an amplitude that is 26% of the mean flux. The X-ray period may be attributed to the scattering and absorption of X-rays through a stellar wind combined with the orbital motion in a binary system. We suggest that X1908+075 is an X-ray binary with a high-mass companion star.

  10. Lobular breast carcinoma with colonic metastases: A synchronous diagnosis in a 4-day period

    Directory of Open Access Journals (Sweden)

    Raquel Albero-González

    2017-03-01

    Full Text Available Lobular breast carcinoma involving the colon is a rare condition. In most cases reported in the literature, metastases are detected after a 20-year latency period after the initial diagnosis. Here we describe a case in which metastatic lobular breast carcinoma and colonic metastasis were simultaneously diagnosed—with only 4 days between the two diagnoses. A 55-year-old woman underwent mammography and colonoscopy in the setting of the National Cancer Screening Program. A malignant nodule in the left breast was detected, and core-biopsy revealed an invasive lobular carcinoma. Simultaneously, numerous intestinal micropolyps were sampled. Histological examination of the latter showed tumor cells growing in cords and presenting signet-ring appearance, thereby confirming metastatic breast carcinoma. In cases such as the one described here, pathological diagnosis can be extremely difficult and deep biopsies are required. Metastatic breast cancer involving the colon can be considerably underestimated because of the unspecificity of the clinical manifestations, the long latency period, and diverse radiological findings that can lead to misdiagnosis. We conclude that clinicians should rule out intestinal metastasis in patients diagnosed with breast cancer, especially the lobular type, and presenting non-specific abdominal symptoms.

  11. He 2-467 = LT Del - the yellow symbiotic star with a period about 500 days

    International Nuclear Information System (INIS)

    Arkhipova, V.P.; Noskova, R.I.

    1988-01-01

    By means of broad and narrow-band photometry in UBV spectral region the variability of the object He 2-467 earlier classified as peculiar cenral star of planetary nebyla has been revealed. The brightness amplitude significantly decreases with the wavelength from 1 m .9 in u-band to 0 m .3 in V. The brightness variations were found to be periodic, with P=488 days. The observations of He2-467 were interpreted using the model of binary consisting of very hot subdwarf and G511-giant. The parameters of both components have been derived. The hot star is probably the evolved low mass nucleus of planetary nebula already dissipated. The periodic variations in U-band may be the result of the reflection effect due to the presence of hot extended region on the side of cold star facing the subdwarf. The subdwarf UV-flux can heat and ionize the upper atmosphere of the giant giving birth to the emission lines and Balmer continuum. The yellow symbiotics to which He 2-467 belong may be predecessors of red symbiotics with M giants

  12. Clinical applications of preimplantation genetic testing.

    Science.gov (United States)

    Brezina, Paul R; Kutteh, William H

    2015-02-19

    Genetic diagnostic technologies are rapidly changing the way medicine is practiced. Preimplantation genetic testing is a well established application of genetic testing within the context of in vitro fertilization cycles. It involves obtaining a cell(s) from a developing embryo in culture, which is then subjected to genetic diagnostic analysis; the resulting information is used to guide which embryos are transferred into the uterus. The potential applications and use of this technology have increased in recent years. Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications of such testing, such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most. © BMJ Publishing Group Ltd 2015.

  13. Hot Topic: Preimplantation aneuploidy screening

    Directory of Open Access Journals (Sweden)

    Kayhan Yakın

    2009-03-01

    Full Text Available Preimplantation Genetic Screening (PGS is a technique that has been introduced into clinical practice to screen and eliminate aneuploid embryos form transfer with the intention to improve implantation rates and decrease pregnancy wastage. Although practiced widely throughout the world the PGS unfortunately has been adopted without being subjected to rigorous scientific validation. Data from recent prospective randomized trials have shed doubt on the efficacy of the procedure when used in women with advanced age, one of the target populations for PGS. Other purported indications for the application of this complicated technique such as recurrent implantation failure and recurrent spontaneous abortion have not been subjected to randomized controlled trials. For the best interest of patients, we feel it is timely for a debate regarding the efficacy and safety of PGS.

  14. Preimplantation diagnosis of genetic diseases

    Directory of Open Access Journals (Sweden)

    Adiga S

    2010-01-01

    Full Text Available One of the landmarks in clinical genetics is prenatal diagnosis of genetic disorders. The recent advances in the field have made it possible to diagnose the genetic conditions in the embryos before implantation in a setting of in vitro fertilization. Polymerase chain reaction and fluorescence in situ hybridization are the two common techniques employed on a single or two cells obtained via embryo biopsy. The couple who seek in vitro fertilization may screen their embryos for aneuploidy and the couple at risk for a monogenic disorder but averse to abortion of the affected fetuses after prenatal diagnosis, are likely to be the best candidates to undergo this procedure. This article reviews the technique, indications, benefits, and limitations of pre-implantation genetic testing in clinical practice.

  15. Swift Detection of a 65 Day X-Ray Period from the Ultraluminous Pulsar NGC 7793 P13

    Energy Technology Data Exchange (ETDEWEB)

    Hu, Chin-Ping; Ng, C.-Y. [Department of Physics, The University of Hong Kong, Pokfulam Road (Hong Kong); Li, K. L. [Department of Physics and Astronomy, Michigan State University, East Lansing, MI 48824 (United States); Kong, Albert K. H. [Institute of Astronomy and Department of Physics, National Tsing Hua University, Hsinchu 30013, Taiwan (China); Lin, Lupin Chun-Che, E-mail: cphu@hku.hk, E-mail: liliray@pa.msu.edu [Institute of Astronomy and Astrophysics, Academia Sinica, Taipei 10617, Taiwan (China)

    2017-01-20

    NGC 7793 P13 is an ultraluminous X-ray source harboring an accreting pulsar. We report on the detection of a ∼65 day period X-ray modulation with Swift observations in this system. The modulation period found in the X-ray band is P = 65.05 ± 0.10 days and the profile is asymmetric with a fast rise and a slower decay. On the other hand, the u -band light curve collected by Swift UVOT confirmed an optical modulation with a period of P = 64.24 ± 0.13 days. We explored the phase evolution of the X-ray and optical periodicities and propose two solutions. A superorbital modulation with a period of ∼2700–4700 days probably caused by the precession of a warped accretion disk is necessary to interpret the phase drift of the optical data. We further discuss the implication if this ∼65 day periodicity is caused by the superorbital modulation. Estimated from the relationship between the spin-orbital and orbital-superorbital periods of known disk-fed high-mass X-ray binaries, the orbital period of P13 is roughly estimated as 3–7 days. In this case, an unknown mechanism with a much longer timescale is needed to interpret the phase drift. Further studies on the stability of these two periodicities with a long-term monitoring could help us to probe their physical origins.

  16. Parasitism of The Rice Brown Planthopper Eggs in Various Periods of Time of The Day

    Directory of Open Access Journals (Sweden)

    Siti Haryati

    2016-07-01

    Full Text Available The rice brown planthopper, Nilaparvata lugens (Hemiptera: Delphacidae is an important pest of rice. Since at the early stage, this pest is infested by parasitoids, but most cultural practices do not consider the existences of parasitoids in rice ecosystem. This study was aimed to determine the level of parasitism on N. lugens with regard to the time of the day. This information would be useful to minimize the effect of insecticide application to the parasitoids. Trapping  of  egg parasitoids in rice ecosystem was conducted every two hours from 05.00 a.m. until 04.00 p.m. Parasitism occured as early as at 05.00 a.m. (12.26% of the total parasitoid found, reached the peak abundance at 11.00 a.m. (36.13%, and decreased at 01.00 p.m. The parasitism level varied from 1.12 to 8.51% at 66 days after planting. The highest number of parasitoids and the highest parasitism level occured when trapping was conducted between 11.00 a.m.−01.00 p.m.. Before and after this period of time, the number of parasitoid emerged and parasitism were low. This suggest that if insecticide is necessary, it should be applied in the early morning or late afternoon.   INTISARI Wereng batang padi cokelat, Nilaparvata lugens (Hemiptera: Delphacidae, merupakan salah satu hama penting padi. Praktik budidaya pertanian padi belum memperhatikan aktivitas parasitoid dalam ekosistem. Tujuan dari penelitian ini yaitu untuk mengetahui tingkat parasitasi telur N. lugens pada beberapa waktu dalam sehari. Informasi ini akan bermanfaat untuk mengurangi dampak aplikasi insektisida terhadap parasitoid. Pemerangkapan parasitoid telur N. lugens di lahan padi dilakukan setiap dua jam yang dimulai pada pukul 05.00 sampai pukul 16.00. Parasitoid telur N. lugens mulai aktif pada pukul 05.00 (12,26%, mencapai puncaknya pukul 11.00 (36,13%, dan mulai mengalami penurunan pada pukul 13.00. Tingkat parasitasi pada tanaman padi umur 66 hari setelah tanam berkisar mulai 1,12−8,51%. Hasil

  17. The First 90 Days of the New Middle School Principal in a Turnaround School: In-Depth Case Study of the Transition Period (First 90 Days)

    Science.gov (United States)

    Baeza, Marco A.

    2010-01-01

    This study analyzed skills, strategies, and theories that new middle school principals used to be successful during their transition period (the first 90 days) in turnaround schools. Based on research on transitions, three research questions guided the study: 1. Do middle school principals in a turnaround school situation find the transition…

  18. Preimplantation development of embryos in women of advanced maternal age

    Directory of Open Access Journals (Sweden)

    O. V. Chaplia

    2014-04-01

    Full Text Available In order to reveal the influence of genetic component on the early embryo development, the retrospective study of morphokinetic characteristics of 717 embryos subjected to preimplantation genetic testing was conducted. Blastomere biopsy for FISH-based preimplantation genetic screening of 7 chromosomes was performed on the third day of culture, while embryo developmental potential and morphological features at the cleavage and blastulation stage were studied regarding maternal age particularly in the group of younger women and patients older than 36. Results of genetic testing revealed that euploid embryos rate gradually decreased with maternal age comprising 39.9% in young women group and 25.3% of specimen belonging to elder patients. At the cleavage stage, morphological characteristics of aneuploid and euploid embryos didn’t differ significantly regardless of the age of patients that could be accounted for the transcriptional silence of embryo genome till the third day of its development. However, in case of prolonged culture chromosomally balanced embryos rarely faced developmental arrest (in 7.9% and formed blastocysts half more frequently compared to aberrant embryos (respectively 75.6 versus 49.8%. Nevertheless, no substantial difference was found between blastocyst formation rate among embryos with similar genetic component regardless of the maternal age. Taking into consideration high rate of chromosomally unbalanced embryos specific to patients of advanced maternal age, the relative proportion of aneuplouid blastocysts was significantly higher in this group of embryos. Thus, without genetic screening there is a possibility of inaccurate selection of embryos for women of advanced reproductive age for transfer procedure even in case of prolonged culture. Consequently, increase of aneuploid embryos frequency associated with permanent preimplantation natural selection effectiveness along with the postimplantation natural selection failure

  19. Effect of prenatal gamma irradiation on the different gestation days on mouse

    International Nuclear Information System (INIS)

    Baskar, R.; Uma Devi, P.

    1993-01-01

    Pregnant Swiss albino mice were given a single local (abdomen) exposure of 50 cGy gamma radiation on days 1.5 to 17.5 post coitus (p.c.). The animals were sacrificed on 18th day of gestation and the fetuses were dissected out and examined for mortality, growth retardation, sex ratio, changes in body weight and length, head length and width, brain weight and incidence of microphthalmia. Preimplantation exposures (days 1.5 and 3.5 p.c.) resulted in a significant increase in embryonic and fetal mortality, while exposure during the postimplantation period (days 5.5 to 12.5 p.c.) produced a significant increase in the number of growth retarded fetuses. A high incidence of growth retarded fetuses was also observed by irradiation at the late fetal period (17.5 days p.c.). Brain weight was significantly affected by exposure on some days during all the three phases of development, i.e. preimplantation (3.5 days p.c.), mager organogenesis (9.5 to 12.5 days p.c.) and fetal (14.5 and 17.5 days p.c.) periods, though the period of sensitiveness was larger during organogenesis period. Eye development was sensitive to radiation effect mainly during the late organogenesis (9.5 to 12.5 days p.c.). It is concluded that the radiosensitivity of mouse embryos to radiation lethality at low dose is confirmed to the preimplantation period, while growth retardation is a prominent effect of irradiation at the early postimplantation embryos. The late organogenesis, especially from 9.5 to 12.5 days p.c. appears to be a particularly sensitive period in the development of brain and eye, though the sensitivity of brain may continue during the fetal life. (author). 9 refs

  20. Partners' experiences of the postdischarge period after day surgery - a qualitative study

    DEFF Research Database (Denmark)

    Majholm, Birgitte; Esbensen, Bente A; Thomsen, Thordis

    2012-01-01

    are now carried out on a day surgery basis, shifting responsibility of care to patients and their partners/relatives. Little is known about how partners of day surgery patients manage this responsibility. Design.  Qualitative descriptive. Methods.  Individual semi-structured interviews with 11 partners...

  1. Technique of the 'in vitro' fertilization and the culture of mouse embryos at preimplantation

    International Nuclear Information System (INIS)

    Kikuchi, Olivia Kimiko; Yamada, Takeshi

    1993-03-01

    The mammal embryo is an intensive cellular proliferating system, very radiosensitive and therefore adequate to the study of the biological effects of ionizing radiation. The technique of the in vitro fertilization and the culture of mouse embryos at preimplantation period, modified by Yamada et al (1982) to improve the efficiency of more than 95% of blastocyst formation is described. (author)

  2. Mouse preimplantation embryo responses to culture medium osmolarity include increased expression of CCM2 and p38 MAPK activation

    Directory of Open Access Journals (Sweden)

    Watson Andrew J

    2007-01-01

    Full Text Available Abstract Background Mechanisms that confer an ability to respond positively to environmental osmolarity are fundamental to ensuring embryo survival during the preimplantation period. Activation of p38 mitogen-activated protein kinase (MAPK occurs following exposure to hyperosmotic treatment. Recently, a novel scaffolding protein called Osmosensing Scaffold for MEKK3 (OSM was linked to p38 MAPK activation in response to sorbitol-induced hypertonicity. The human ortholog of OSM is cerebral cavernous malformation 2 (CCM2. The present study was conducted to investigate whether CCM2 is expressed during mouse preimplantation development and to determine whether this scaffolding protein is associated with p38 MAPK activation following exposure of preimplantation embryos to hyperosmotic environments. Results Our results indicate that Ccm2 along with upstream p38 MAPK pathway constituents (Map3k3, Map2k3, Map2k6, and Map2k4 are expressed throughout mouse preimplantation development. CCM2, MAP3K3 and the phosphorylated forms of MAP2K3/MAP2K6 and MAP2K4 were also detected throughout preimplantation development. Embryo culture in hyperosmotic media increased p38 MAPK activity in conjunction with elevated CCM2 levels. Conclusion These results define the expression of upstream activators of p38 MAPK during preimplantation development and indicate that embryo responses to hyperosmotic environments include elevation of CCM2 and activation of p38 MAPK.

  3. Discovery of a 115 Day Orbital Period in the Ultraluminous X-ray Source NGC 5408 X-1

    Science.gov (United States)

    Strohmayer, Tod E.

    2009-01-01

    We report the detection of a 115 day periodicity in SWIFT/XRT monitoring data from the ultraluminous X-ray source (ULX) NGC 5408 X-1. Our o ngoing campaign samples its X-ray flux approximately twice weekly and has now achieved a temporal baseline of ti 485 days. Periodogram ana lysis reveals a significant periodicity with a period of 115.5 +/- 4 days. The modulation is detected with a significance of 3.2 x 10(exp -4) . The fractional modulation amplitude decreases with increasing e nergy, ranging from 0.13 +/- 0.02 above 1 keV to 0.24 +/- 0.02 below 1 keV. The shape of the profile evolves as well, becoming less sharply peaked at higher energies. The periodogram analysis is consistent wi th a periodic process, however, continued monitoring is required to c onfirm the coherent nature of the modulation. Spectral analysis indic ates that NGC 5408 X-1 can reach 0.3 - 10 keV luminosities of approxi mately 2 x 10 40 ergs/s . We suggest that, like the 62 day period of the ULX in M82 (X41.4-1-60), the periodicity detected in NGC 5408 X-1 represents the orbital period of the black hole binary containing the ULX. If this is true then the secondary can only be a giant or super giant star.

  4. Advances in preimplantation genetic diagnosis/screening.

    Science.gov (United States)

    Yan, LiYing; Wei, Yuan; Huang, Jin; Zhu, XiaoHui; Shi, XiaoDan; Xia, Xi; Yan, Jie; Lu, CuiLing; Lian, Ying; Li, Rong; Liu, Ping; Qiao, Jie

    2014-07-01

    Preimplantation genetic diagnosis (PGD) gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection. Preimplantation genetic screening (PGS) is an effective method to select euploid embryos that may prevent repeated implantation failure or miscarriage. However, how and to whom PGS should be provided is a controversial topic. The first successful case of PGD of a human being was reported in 1990, and there have been tremendous improvements in this technology since then. Both embryo biopsy and genetic technologies have been improved dramatically, which increase the accuracy and expand the indications of PGD/PGS.

  5. An optimal separation of the year to periods with different number of precipitation days

    Czech Academy of Sciences Publication Activity Database

    Hnilica, Jan

    2013-01-01

    Roč. 15, - (2013), s. 4724-1 ISSN 1607-7962. [EGU General Assembly 2013. 07.04.2013-12.04.2013, Vienna] R&D Projects: GA AV ČR IAA300600901 Institutional support: RVO:67985874 Keywords : precipitation days * Malse river * REMO climate model Subject RIV: DA - Hydrology ; Limnology

  6. GMP-grade α-TEA lysine salt: a 28-Day oral toxicity and toxicokinetic study with a 28-Day recovery period in Beagle dogs

    International Nuclear Information System (INIS)

    Guerrouahen, Bella S.; Hahn, Tobias; Alderman, Zefora; Curti, Brendan; Urba, Walter; Akporiaye, Emmanuel T.

    2016-01-01

    Alpha-tocopheryloxyacetic acid (α-TEA) is a semi-synthetic derivative of naturally occurring vitamin E (alpha-tocopherol) that can be delivered via an oral route. Preclinical in vitro and in vivo data demonstrated that α-TEA is a potent anti-tumor agent with a safe toxicity profile in mice. We report a comprehensive study to evaluate the toxokinetics of good manufacturing practice (GMP)-grade α-TEA in dogs after daily oral administration for 28 days, followed by a 28-day recovery period. Male and female beagle dogs received capsules of α-TEA Lysine Salt at doses of 100, 300, 1500 mg/kg/day. α-TEA plasma levels were determined by high-performance liquid chromatography (HPLC) with mass spectrometric detection. During the treatment, animals were observe for clinical signs, food consumption, body weight, and subjected to ophthalmoscopic, and electrocardiographic assessments. At the end of the dosing period, blood was taken and toxicokinetic analyses and histopathology assessments were performed when animals were necropsied. Our findings showed that there was no α-TEA-related mortality or moribundity. At the highest dose, increases in white blood cells and fibrinogen levels were observed. These levels returned to normal at the end of the recovery period. Histopathological evaluation of major organs revealed no significant lesions related to α-TEA-treatment. We demonstrate that for designing clinical trials in patients, the highest non-severely toxic dose (HNSTD) of α-TEA is 1500 mg/kg/day in Beagle dogs and this data informed the design of dose-escalation studies of α-TEA in patients with advanced cancer

  7. 78 FR 36560 - 30-Day Notice of Proposed Information Collection: FHA Lender Approval, Annual Renewal, Periodic...

    Science.gov (United States)

    2013-06-18

    ... 92001-C Non-compliances on Title I Lenders Description of the need for the information and proposed use... Information Collection: FHA Lender Approval, Annual Renewal, Periodic Updates and Noncompliance Reporting by FHA Approved Lenders AGENCY: Office of the Chief Information Officer, HUD. ACTION: Notice. SUMMARY...

  8. A seven day running training period increases basal urinary hepcidin levels as compared to cycling

    NARCIS (Netherlands)

    Sim, M.; Dawson, B.; Landers, G.J.; Swinkels, D.W.; Tjalsma, H.; Wiegerinck, E.T.G.; Trinder, D.; Peeling, P.

    2014-01-01

    BACKGROUND: This investigation compared the effects of an extended period of weight-bearing (running) vs. non-weight-bearing (cycling) exercise on hepcidin production and its implications for iron status. METHODS: Ten active males performed two separate exercise training blocks with either running

  9. Day-to-day thermosphere parameter variation as deduced from Millstone Hill incoherent scatter radar observations during March 16-22, 1990 magnetic storm period

    Directory of Open Access Journals (Sweden)

    A. V. Mikhailov

    1997-11-01

    Full Text Available A self-consistent method for day-time F2-region modelling was applied to the analysis of Millstone Hill incoherent scatter observations during the storm period of March 16-22, 1990. The method allows us to calculate in a self-consistent way neutral composition, temperature and meridional wind as well as the ionized species height distribution. Theoretically calculated Ne(h profiles fit the observed daytime ones with great accuracy in the whole range of heights above 150 km for both quiet and disturbed days. The overall increase in Tex by 270 K from March 16 to March 22 reflects the increase of solar activity level during the period in question. A 30% decrease in [O] and a two-fold increase in [N2] are calculated for the disturbed day of March 22 relative to quiet time prestorm conditions. Only a small reaction to the first geomagnetic disturbance on March 18 and the initial phase of the second storm on March 20 was found in [O] and [N2] variations. The meridional neutral wind inferred from plasma vertical drift clearly demonstrates the dependence on the geomagnetic activity level being more equatorward on disturbed days. Small positive F2-layer storm effects on March 18 and 20 are totally attributed to the decrease in the northward neutral wind but not to changes in neutral composition. A moderate (by a factor of 1.5 O/N2 ratio decrease relative to the MSIS-83 model prediction is required to describe the observed NmF2 decrease on the most disturbed day of March 22, but virtually no change of this ratio is needed for March 21.

  10. Studies of effects of closed microbial ecology. Report of 180-day test period

    Science.gov (United States)

    Kenyon, A. J.

    1972-01-01

    Experiments were performed to determine the influence closed microbial ecologies have on modification or simplification of natural intestinal flora of ferrets in a closed environmental system. On the basis of previous tests in which certain species (Salmonella and Bacteroides) were decreased at 90 days of enclosure, a second trial was constructed for 180-day tests. In this trial there was little difference in the 8 major classes of intestinal flora between animals in the Open and Closed environmental groups except for the level of Lactobacillus. It is of extreme importance to note that when both Open and Closed groups contracted hemorrhagic gastritis, the interrelationship of this agent with other intestinal flora produced a more profound effect on animals from the Closed Group, particularly with reference to Lactobacillus levels.

  11. Preimplantation genetic screening: back to the future

    NARCIS (Netherlands)

    Mastenbroek, Sebastiaan; Repping, Sjoerd

    2014-01-01

    All agree that in hindsight the rapid adoption of preimplantation genetic screening (PGS) using cleavage stage biopsy and fluorescence in situ hybridization (FISH) in routine clinical practice without proper evaluation of (cost-)effectiveness basically resulted in couples paying more money for a

  12. Radiotoxicity and incorporation of methyl-tritiated-thymidine on preimplantation mouse embryo. In vitro fertilization and culture

    International Nuclear Information System (INIS)

    Kikuchi, O.K.; Ohyama, H.; Yamada, T.

    1993-04-01

    In the present work different concentrations of methyl- 3 H-thymidine was added to the culture medium micro drops containing the mouse zygotes at pro nuclear stage and the embryos were cultured in vitro at 37 0 C in a humidified atmosphere with 5% of CO 2 for four days up to the expanded blastocyst stage, the established end point to calculate the L D 50 lethal dose. The blastocyst formation rate decreased with increasing concentration of tritium in medium and a value of 2.4 X 10 3 Bq/ml for L D 50 was obtained. The 3 H-Td R incorporation by the embryo during the preimplantation period was low at the beginning and increased quickly during the morula and the blastocyst development. (author)

  13. 42 CFR 409.63 - Reduction of inpatient psychiatric benefit days available in the initial benefit period.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Reduction of inpatient psychiatric benefit days available in the initial benefit period. 409.63 Section 409.63 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE PROGRAM HOSPITAL INSURANCE BENEFITS Scope of...

  14. Fermentation of liquid coproducts and liquid compound diets: Part 1. Effects on chemical composition during 6-day storage period

    NARCIS (Netherlands)

    Scholten, R.H.J.; Rijnen, M.M.J.A.; Schrama, J.W.; Boer, H.; Vesseur, P.C.; Hartog, den L.A.; Peet-Schwering, van der C.M.C.; Verstegen, M.W.A.

    2001-01-01

    The effects of a 6-day storage period on changes in dry matter, crude ash, crude protein, true protein, crude fat, starch, soluble starch, sugar and lactose of three liquid coproducts and two liquid compound diets were studied. The three liquid coproducts studied were: liquid wheat starch (LWS),

  15. 76 FR 6794 - 30-Day Submission Period for Requests for ONC-Approved Accreditor (ONC-AA) Status

    Science.gov (United States)

    2011-02-08

    ... Accreditor (ONC-AA) Status AGENCY: Office of the National Coordinator for Health Information Technology... submission of requests for ONC-Approved Accreditor (ONC-AA) status. Authority: 42 U.S.C. 300jj-11. DATES: The... for ONC-AA status may be submitted. The 30-day period for submission of requests for ONC-AA status...

  16. A 10-day vacancy period after cleaning and disinfection has no effect on the bacterial load in pig nursery units.

    Science.gov (United States)

    Luyckx, K; Millet, S; Van Weyenberg, S; Herman, L; Heyndrickx, M; Dewulf, J; De Reu, K

    2016-10-19

    Biosecurity measures such as cleaning, disinfection and a vacancy period between production cycles on pig farms are essential to prevent disease outbreaks. No studies have tested the effect of a longer vacancy period on bacterial load in nursery units. The present study evaluated the effect of a 10-day vacancy period in pig nursery units on total aerobic flora, Enterococcus spp., Escherichia coli, faecal coliforms and methicillin resistant Staphylococcus aureus (MRSA). Three vacancy periods of 10 days were monitored, each time applied in 3 units. The microbiological load was measured before disinfection and at 1, 4, 7 and 10 days after disinfection. No significant decrease or increase in E. coli, faecal coliforms, MRSA and Enterococcus spp. was noticed. Total aerobic flora counts were the lowest on day 4 after disinfection (i.e. 4.07 log CFU/625 cm 2 ) (P disinfection, drinking nipples were still mostly contaminated with total aerobic flora (i.e. 5.32 log CFU/625 cm 2 ) and Enterococcus spp. (i.e. 95 % of the samples were positive) (P disinfection with no extra biosecurity measures has no impact on the environmental load of total aerobic flora, E. coli, faecal coliforms, MRSA and Enterococcus spp..

  17. De novo DNA methylation during monkey pre-implantation embryogenesis.

    Science.gov (United States)

    Gao, Fei; Niu, Yuyu; Sun, Yi Eve; Lu, Hanlin; Chen, Yongchang; Li, Siguang; Kang, Yu; Luo, Yuping; Si, Chenyang; Yu, Juehua; Li, Chang; Sun, Nianqin; Si, Wei; Wang, Hong; Ji, Weizhi; Tan, Tao

    2017-04-01

    Critical epigenetic regulation of primate embryogenesis entails DNA methylome changes. Here we report genome-wide composition, patterning, and stage-specific dynamics of DNA methylation in pre-implantation rhesus monkey embryos as well as male and female gametes studied using an optimized tagmentation-based whole-genome bisulfite sequencing method. We show that upon fertilization, both paternal and maternal genomes undergo active DNA demethylation, and genome-wide de novo DNA methylation is also initiated in the same period. By the 8-cell stage, remethylation becomes more pronounced than demethylation, resulting in an increase in global DNA methylation. Promoters of genes associated with oxidative phosphorylation are preferentially remethylated at the 8-cell stage, suggesting that this mode of energy metabolism may not be favored. Unlike in rodents, X chromosome inactivation is not observed during monkey pre-implantation development. Our study provides the first comprehensive illustration of the 'wax and wane' phases of DNA methylation dynamics. Most importantly, our DNA methyltransferase loss-of-function analysis indicates that DNA methylation influences early monkey embryogenesis.

  18. Impact of preimplantation genetic screening on donor oocyte-recipient cycles in the United States.

    Science.gov (United States)

    Barad, David H; Darmon, Sarah K; Kushnir, Vitaly A; Albertini, David F; Gleicher, Norbert

    2017-11-01

    Our objective was to estimate the contribution of preimplantation genetic screening to in vitro fertilization pregnancy outcomes in donor oocyte-recipient cycles. This was a retrospective cross-sectional study of US national data from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System between 2005 and 2013. Society for Assisted Reproductive Technology Clinic Outcome Reporting relies on voluntarily annual reports by more than 90% of US in vitro fertilization centers. We evaluated pregnancy and live birth rates in donor oocyte-recipient cycles after the first embryo transfer with day 5/6 embryos. Statistical models, adjusted for patient and donor ages, number of embryos transferred, race, infertility diagnosis, and cycle year were created to compare live birth rates in 392 preimplantation genetic screening and 20,616 control cycles. Overall, pregnancy and live birth rates were significantly lower in preimplantation genetic screening cycles than in control cycles. Adjusted odds of live birth for preimplantation genetic screening cycles were reduced by 35% (odds ratio, 0.65, 95% confidence interval, 0.53-0.80; P cycles over the past 9 years, has not been associated with improved odds of live birth or reduction in miscarriage rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. PHYSICAL PROPERTIES OF THE 0.94-DAY PERIOD TRANSITING PLANETARY SYSTEM WASP-18

    International Nuclear Information System (INIS)

    Southworth, John; Anderson, D. R.; Maxted, P. F. L.; Hinse, T. C.; Dominik, M.; Mathiasen, M.; Browne, P.; Glitrup, M.; Joergensen, U. G.; Harpsoee, K.; Liebig, C.; Maier, G.; Bozza, V.; Calchi Novati, S.; Mancini, L.; Burgdorf, M.; Dreizler, S.; Hessman, F.; Hundertmark, M.; Finet, F.

    2009-01-01

    We present high-precision photometry of five consecutive transits of WASP-18, an extrasolar planetary system with one of the shortest orbital periods known. Through the use of telescope defocusing we achieve a photometric precision of 0.47-0.83 mmag per observation over complete transit events. The data are analyzed using the JKTEBOP code and three different sets of stellar evolutionary models. We find the mass and radius of the planet to be M b = 10.43 ± 0.30 ± 0.24 M Jup and R b = 1.165 ± 0.055 ± 0.014 R Jup (statistical and systematic errors), respectively. The systematic errors in the orbital separation and the stellar and planetary masses, arising from the use of theoretical predictions, are of a similar size to the statistical errors and set a limit on our understanding of the WASP-18 system. We point out that seven of the nine known massive transiting planets (M b > 3 M Jup ) have eccentric orbits, whereas significant orbital eccentricity has been detected for only four of the 46 less-massive planets. This may indicate that there are two different populations of transiting planets, but could also be explained by observational biases. Further radial velocity observations of low-mass planets will make it possible to choose between these two scenarios.

  20. An estimate of equatorial wave energy flux at 9- to 90-day periods in the Central Pacific

    Science.gov (United States)

    Eriksen, Charles C.; Richman, James G.

    1988-01-01

    Deep fluctuations in current along the equator in the Central Pacific are dominated by coherent structures which correspond closely to narrow-band propagating equatorial waves. Currents were measured roughly at 1500 and 3000 m depths at five moorings between 144 and 148 deg W from January 1981 to March 1983, as part of the Pacific Equatorial Ocean Dynamics program. In each frequency band resolved, a single complex empirical orthogonal function accounts for half to three quarters of the observed variance in either zonal or meridional current. Dispersion for equatorial first meridional Rossby and Rossby gravity waves is consistent with the observed vertical-zonal coherence structure. The observations indicate that energy flux is westward and downward in long first meridional mode Rossby waves at periods 45 days and longer, and eastward and downward in short first meridional mode Rossby waves and Rossby-gravity waves at periods 30 days and shorter. A local minimum in energy flux occurs at periods corresponding to a maximum in upper-ocean meridional current energy contributed by tropical instability waves. Total vertical flux across the 9- to 90-day period range is 2.5 kW/m.

  1. Preimplantation Genetic Diagnosis for Stargardt Disease

    Science.gov (United States)

    Sohrab, Mahsa A.; Allikmets, Rando; Guarnaccia, Michael M.; Smith, R. Theodore

    2010-01-01

    Purpose To report the first use of in vitro fertilization (IVF) and preimplantation genetic diagnosis to achieve an unaffected pregnancy in an autosomal-recessive retinal dystrophy. Design Case report. Methods An affected male with Stargardt disease and his carrier wife underwent IVF. Embryos obtained by intracytoplasmic sperm injection underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of ABCA4 mutant alleles. Embryos were diagnosed as being either affected by or carriers for Stargardt disease. A single carrier embryo was implanted. Results Chorionic villus sampling performed during the first trimester verified that the fetus possessed only one mutant paternal allele and one normal maternal allele, thus making her an unaffected carrier of the disease. A healthy, live-born female was delivered. Conclusion IVF and preimplantation genetic diagnosis can assist couples with an affected spouse and a carrier spouse with recessive retinal dystrophies to have an unaffected child. PMID:20149343

  2. [Impacts on repeated common cold for the adults with different constitutions treated by acupoint application in the dog days and the three nine-day periods after the winter solstice].

    Science.gov (United States)

    Lou, Bi-Dan; Yang, Li-Bai; Zhang, Wei; Li, Jin-Xiang; Li, Xiao-Ping; Li, Wu; Yang, Shu-Quan; Huang, Xiang-Hong; Liu, Xing-Ping; Cao, Yue; Pan, Jiang

    2012-11-01

    To observe the impacts on repeated common cold for the adults with different constitutions treated by acupoint application in the dog days (the three periods of the hottest days) and the three nine-day periods after the winter solstice (the three periods of the coldest days). One hundred and fifty-two cases of repeated common cold were divided into four zones according to the body constitution. Each zone was sub-divided into a group of the dog days + the three nine-day periods of the coldest days (group A), and a simple group of the dog periods (group B). In both groups, Dazhui (GV 14), Feishu (BL 13), Tiantu (CV 22), Danzhong (CV 17), Zhongfu (LU 1) and Shenshu (BL 23) were selected. In group A, the acupoint application was given on the 1st or 2nd day of the first, second and third periods of the hottest days in 2010, as well as the 1st or 2nd day of the first, second and third periods of the coldest days in 2010 separately. In group B, the acupoint application was only given on the 1st or 2nd day of the first, second and third periods of the hottest days in 2010. The follow-up visit was conducted before the acupoint application in the three periods of the coldest days in 2010 and before the acupoint application in the three periods of the hottest days in 2011. Additionally, the frequency of disease attack and the symptom score in sickness were taken as the observation indices for the efficacy assessment in both groups. (1) In both groups, the attack frequency was reduced obviously in half a year after the three periods of the hottest days for the patients of qi deficiency constitution, yang deficiency constitution and qi stagnation constitution and the clinical symptom score were reduced apparently (all Pcoldest days for the patients of those four constitutions as compared with those before treatment (all Pcoldest days, the efficacy for reducing the attack frequency and the improvements in the clinical symptoms were better than those in group B (all P<0.01). The

  3. Embryonic/fetal mortality after exposure to tritiated water in pregnant Swiss albino mice during different gestation periods

    International Nuclear Information System (INIS)

    Sharma, Kalpana; Saini, M.R.

    1993-01-01

    Pregnant Swiss albino mice were given a priming injection(im) of tritiated water (HTO) at the dose rate of 2.3 and 5 μCi/ml body water (74, III or 185 K Bq/ml body water) at 0,6 and 14 day post conception (d.p.c) and were subsequently maintained on tritiated drinking water ad libitum during preimplantation (0-5 d.p.c), organogenetic (6-12 d.c.p.) or fetal (14-18 d.p.c) period, respectively. On day 18 of gestation the females were sacrificed by cervical dislocation to record the implant sites per dam and embryonic/fetal mortality. Significant reduction was observed in average implant sites per dam when the females were exposed to any of the three doses during the preimplantation period due to embryonic resorption before implantation. However, the same was found to be within the normal range when mothers were exposed during the organogenetic or fetal period. Prenatal mortality (embryonic resorption/fetal death) was higher after in utero exposure to different doses during preimplantation period as compared to organogenetic period, but mortality did not occur after exposure to any of the doses during the fetal period. Occurrence of mortality was found to be dose dependent. (author). 25 refs., 1 tab

  4. What time periods of the day are concerning for parents of children with attention deficit hyperactivity disorder?

    Directory of Open Access Journals (Sweden)

    Masahide Usami

    Full Text Available BACKGROUND/AIM: The questionnaire-children with difficulties (QCD is a parent-assessed questionnaire designed to evaluate a child's difficulties in functioning during specific time periods of the day. In this study, the QCD was applied to determine the time periods of the day that are concerning for the parents of children with attention deficit hyperactivity disorder (ADHD. The results were compared with those for a community sample. METHODS: Elementary and junior high school students with ADHD (243 boys, 55 girls and a community sample of children (518 boys, 618 girls were enrolled in this study. Their behaviors were assessed by the QCD, the ADHD-rating scale (ADHD-RS, and the Oppositional Defiant Behavior Inventory (ODBI. The effects of gender (boy/girl and diagnosis (ADHD/community sample on the total QCD score were analyzed across each school grade (elementary/junior high school. Correlation coefficients between QCD and ADHD-RS/ODBI scores were analyzed. RESULTS: The QCD score for the ADHD group was significantly lower than that for the community sample (P 0.41, P 0.40, P < 0.001. CONCLUSIONS: Parents reported that children with ADHD faced greater difficulties in completing basic daily activities compared with the community controls, particularly in the evening. Furthermore, these difficulties were related to the severity of ADHD symptoms. The parents' perceptions depended on the gender, ADHD and oppositional symptoms, and the time period of the day. This study determined that children with ADHD face greater difficulties in daily functioning compared with community sample children, that these difficulties are time-dependent, and that these difficulties were particularly experienced in the evening.

  5. Chromosomal mosaicism in human preimplantation embryos: a systematic review.

    NARCIS (Netherlands)

    Echten-Arends, J. van; Mastenbroek, S.; Sikkema-Raddatz, B.; Korevaar, J.C.; Heineman, M.J.; Veen, F. van der; Repping, S.

    2011-01-01

    BACKGROUND: Although chromosomal mosaicism in human preimplantation embryos has been described for almost two decades, its exact prevalence is still unknown. The prevalence of mosaicism is important in the context of preimplantation genetic screening in which the chromosomal status of an embryo is

  6. Chromosomal mosaicism in human preimplantation embryos : a systematic review

    NARCIS (Netherlands)

    van Echten-Arends, Jannie; Mastenbroek, Sebastiaan; Sikkema-Raddatz, Birgit; Korevaar, Johanna C.; Heineman, Maas Jan; van der Veen, Fulco; Repping, Sjoerd

    2011-01-01

    BACKGROUND: Although chromosomal mosaicism in human preimplantation embryos has been described for almost two decades, its exact prevalence is still unknown. The prevalence of mosaicism is important in the context of preimplantation genetic screening in which the chromosomal status of an embryo is

  7. Minute changes to the culture environment of mouse pre-implantation embryos affect the health of the conceptus

    Directory of Open Access Journals (Sweden)

    George Koustas

    2016-07-01

    Conclusions: Exposing mouse pre-implantation embryos to ambient air at 37.0 °C, even for brief periods for routine micromanipulations is detrimental to normal embryonic development. Our results highlight the importance of how small alterations in the culture environment can have major consequences for the health of the embryo.

  8. Transcriptome profiling of human pre-implantation development.

    Directory of Open Access Journals (Sweden)

    Pu Zhang

    Full Text Available BACKGROUND: Preimplantation development is a crucial step in early human development. However, the molecular basis of human preimplantation development is not well known. METHODOLOGY: By applying microarray on 397 human oocytes and embryos at six developmental stages, we studied the transcription dynamics during human preimplantation development. PRINCIPAL FINDINGS: We found that the preimplantation development consisted of two main transitions: from metaphase-II oocyte to 4-cell embryo where mainly the maternal genes were expressed, and from 8-cell embryo to blastocyst with down-regulation of the maternal genes and up-regulation of embryonic genes. Human preimplantation development proved relatively autonomous. Genes predominantly expressed in oocytes and embryos are well conserved during evolution. SIGNIFICANCE: Our database and findings provide fundamental resources for understanding

  9. Comparison of Techniques for Preimplantation Treatment of Osteochondral Allograft Bone.

    Science.gov (United States)

    Baumann, Charles A; Baumann, John R; Bozynski, Chantelle C; Stoker, Aaron M; Stannard, James P; Cook, James L

    2018-03-07

    Articular defects are a major problem with few effective treatment options. Osteochondral allograft (OCA) transplantation can be an effective treatment; however, lack of OCA bone integration can cause failure. This controlled laboratory study was designed to compare clinically applicable methods for marrow element removal and enhanced delivery of bone marrow aspirate concentrate (BMC) to OCA bone. We hypothesized that compressed carbon dioxide (CO 2 ) treatment of OCA bone would result in significantly better marrow element removal, significantly more retention and distribution of viable osteoprogenitor cells, and significantly higher osteoinductive protein elution from OCAs compared with other preimplantation treatments. Fresh humeral heads ( n  = 24) were harvested and stored for 14 days, then randomly assigned to treatment based on marrow element removal and bone treatment: (standard of care [SOC]) ( n  = 4) - SOC high-pulse saline lavage, no BMC; (BMC) ( n  = 5) - saline lavage then canine BMC; (Drill + BMC) ( n  = 5) - 1.1 mm drill-hole immediately subchondral then saline lavage then BMC injection through drill hole; (Carb + BMC) ( n  = 5) - saline lavage then CO 2 then BMC; or (Saline-Carb + BMC) ( n  = 5) - saline lavage and CO 2 together then BMC. Treated OCAs were cultured for 14 days. On day 3, media were collected, centrifuged to isolate cells, and replaced. Cells were cultured for 11 days for colony forming unit (CFU) determination. OCA media were collected on days 7 and 14 of culture for analysis. On day 14, each graft was assessed for viable cell retention and distribution, and bone marrow element removal. BMC had significantly higher ( p  = 0.001) viable cell distribution compared with the SOC, Drill + BMC, Carb + BMC, and Saline-Carb + BMC groups. BMC and Drill + BMC had significantly higher ( p  BMC, and Saline-Carb + BMC. Drill + BMC and Carb + BMC had the highest media

  10. Period of sunspot numbers is 11.02653720 years (11 years 9 days 16 hours 18 minutes 0 seconds)

    International Nuclear Information System (INIS)

    Norita, Sadataka

    1976-01-01

    In the statistical analysis of time series there have been applied usually the stationary stochastic process or the Markov stochastic process and recently there are applied remarkably an autoregressive process, a stochastic difference equation, an autoregressive-moving average process, a moving average process, the Whittaker periodogram, the correlogram, Schuster periodogram, chi-squared periodogram, level crossings, harmonic process, difference method, spectral density and first order vector equation, but in special case it is desirable to apply the nonstationary stocastic process. In this paper we introduce an stationarity into the autoregressive process and then it is the first purpose to compute precisely period of sunspot numbers. The result up to the eighth places at the decimal point was obtained that its period is 11.02653720 years, that is, 11 years 9 days 16 hours 18 minutes 0 seconds. This is considered to be more relevant than numerical values by which Schuster (1906) and Yule (1927) had calculated the respective 11.125 years and 10.60 years in the past. We revised the theoretical expression in the thesis of Anderson, Shaman, Lindgren, Brillinger, Newbold, Parzen, Kingman, Van Ness and Kenneth, etc. and executed the numerical analysis of period of sunspot numbers investigated now. (auth.)

  11. Period of sunspot numbers is 11. 02653720 years (11 years 9 days 16 hours 18 minutes 0 seconds)

    Energy Technology Data Exchange (ETDEWEB)

    Norita, S [Miyazaki Univ. (Japan). Faculty of Engineering

    1976-09-01

    In the statistical analysis of time series there have been applied usually the stationary stochastic process or the Markov stochastic process and recently there are applied remarkably an autoregressive process, a stochastic difference equation, an autoregressive-moving average process, a moving average process, the Whittaker periodogram, the correlogram, Schuster periodogram, chi-squared periodogram, level crossings, harmonic process, difference method, spectral density and first order vector equation, but in special case it is desirable to apply the nonstationary stocastic process. In this paper we introduce a stationarity into the autoregressive process and then it is the first purpose to compute precisely the period of sunspot numbers. The result up to the eighth places at the decimal point was obtained that its period is 11.02653720 years, that is, 11 years 9 days 16 hours 18 minutes 0 seconds. This is considered to be more relevant than numerical values by which Schuster (1906) and Yule (1927) had calculated the respective 11.125 years and 10.60 years in the past. We revised the theoretical expression in the thesis of Anderson, Shaman, Lindgren, Brillinger, Newbold, Parzen, Kingman, Van Ness and Kenneth, etc. and executed the numerical analysis of period of sunspot numbers investigated now.

  12. Differences in gene expression profiles between human preimplantation embryos cultured in two different IVF culture media.

    Science.gov (United States)

    Kleijkers, Sander H M; Eijssen, Lars M T; Coonen, Edith; Derhaag, Josien G; Mantikou, Eleni; Jonker, Martijs J; Mastenbroek, Sebastiaan; Repping, Sjoerd; Evers, Johannes L H; Dumoulin, John C M; van Montfoort, Aafke P A

    2015-10-01

    Is gene expression in human preimplantation embryos affected by the medium used for embryo culture in vitro during an IVF treatment? Six days of in vitro culture of human preimplantation embryos resulted in medium-dependent differences in expression level of genes involved in apoptosis, protein degradation, metabolism and cell-cycle regulation. Several human studies have shown an effect of culture medium on embryo development, pregnancy outcome and birthweight. However, the underlying mechanisms in human embryos are still unknown. In animal models of human development, it has been demonstrated that culture of preimplantation embryos in vitro affects gene expression. In humans, it has been found that culture medium affects gene expression of cryopreserved embryos that, after thawing, were cultured in two different media for 2 more days. In a multicenter trial, women were randomly assigned to two culture medium groups [G5 and human tubal fluid (HTF)]. Data on embryonic development were collected for all embryos. In one center, embryos originating from two pronuclei (2PN) zygotes that were not selected for transfer or cryopreservation on Day 2 or 3 because of lower morphological quality, were cultured until Day 6 and used in this study, if couples consented. Ten blastocysts each from the G5 and HTF study groups, matched for fertilization method, maternal age and blastocyst quality, were selected and their mRNA was isolated and amplified. Embryos were examined individually for genome-wide gene expression using Agilent microarrays and PathVisio was used to identify the pathways that showed a culture medium-dependent activity. Expression of 951 genes differed significantly (P differences observed between the study groups are caused by factors that we did not investigate. Extrapolation of these results to embryos used for transfer demands caution as in the present study embryos that were not selected for either embryo transfer or cryopreservation have been used for the

  13. Recent advances in preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Kahraman S

    2015-04-01

    Full Text Available Semra Kahraman, Çağri Beyazyürek, Hüseyin Avni Taç, Caroline Pirkevi, Murat Cetinkaya, Neşe Gülüm IVF and Reproductive Genetics Center, Istanbul Memorial Hospital, Istanbul, Turkey Abstract: Preimplantation genetic diagnosis (PGD is an important method for the identification chromosomal abnormalities and genes responsible for genetic defects in embryos that are created through in vitro fertilization before pregnancy. As the list of conditions and indications for PGD testing is continuing to extend enormously, novel in vitro fertilization techniques and newly established genetic analysis techniques have been implemented in clinical settings in the recent years. Blastocyst-stage biopsy, vitrification techniques, time-lapse imaging, whole-genome amplification, array-based diagnostic techniques, and next-generation sequencing techniques are promising techniques for the accurate diagnosis of diverse genetic conditions and also for the selection of the best embryo that has the highest implantation capacity. The timing and technique used for biopsy, the amplification techniques, the genetic diagnosis techniques, and appropriate genetic counseling play important roles in establishing a successful PGD. In this review, those key points of PGD will be reviewed in detail. Keywords: preimplantation genetic diagnosis, array comparative genomic hybridization, single-nucleotide polymorphism arrays, next-generation sequencing, monogenic disorders, aneuploidy testing 

  14. Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Doshi Alpesh

    2010-02-01

    Full Text Available Abstract Background Two related family members, a female and a male balanced carrier of an intrachromosomal insertion on chromosome 7 were referred to our centre for preimplantation genetic diagnosis. This presented a rare opportunity to investigate the behaviour of the insertion chromosome during meiosis in two related carriers. The aim of this study was to carry out a detailed genetic analysis of the preimplantation embryos that were generated from the three treatment cycles for the male and two for the female carrier. Patients underwent in vitro fertilization and on day 3, 22 embryos from the female carrier and 19 embryos from the male carrier were biopsied and cells analysed by fluorescent in situ hybridization. Follow up analysis of 29 untransferred embryos was also performed for confirmation of the diagnosis and to obtain information on meiotic and mitotic outcome. Results In this study, the female carrier produced more than twice as many chromosomally balanced embryos as the male (76.5% vs. 36%, and two pregnancies were achieved for her. Follow up analysis showed that the male carrier had produced more highly abnormal embryos than the female (25% and 15% respectively and no pregnancies occurred for the male carrier and his partner. Conclusion This study compares how an intrachromosomal insertion has behaved in the meiotic and preimplantation stages of development in sibling male and female carriers. It confirms that PGD is an appropriate treatment in such cases. Reasons for the differing outcome for the two carriers are discussed.

  15. Preimplantation genetic diagnosis to improve pregnancy outcomes in subfertility.

    Science.gov (United States)

    Simpson, Joe Leigh

    2012-12-01

    Pre-implantation genetic diagnosis provides prenatal genetic diagnosis before implantation, thus allowing detection of chromosomal abnormalities and their exclusion from embryo transfer in assisted reproductive technologies. Polar body, blastomere or trophectoderm can each be used to obtain requisite genetic or embryonic DNA. Pre-implantation genetic diagnosis for excluding unbalanced translocations is well accepted, and pre-implantation genetic diagnosis aneuploidy testing to avoid repeated pregnancy losses in couples having recurrent aneuploidy is efficacious in reducing miscarriages. Controversy remains about whether pre-implantation genetic diagnosis aneuploidy testing improves take home pregnancy rates, for which reason adherence to specific indications is recommended while the issue is being adjudicated. Current recommendations are for obligatory 24 chromosome testing, most readily using array comparative genome hybridisation. Copyright © 2012 Elsevier Ltd. All rights reserved.

  16. Effects of dietary omega-3 and -6 supplementations on phospholipid fatty acid composition in mice uterus during window of pre-implantation.

    Science.gov (United States)

    Fattahi, Amir; Darabi, Masoud; Farzadi, Laya; Salmassi, Ali; Latifi, Zeinab; Mehdizadeh, Amir; Shaaker, Maghsood; Ghasemnejad, Tohid; Roshangar, Leila; Nouri, Mohammad

    2018-03-01

    Since fatty acid composition of uterus phospholipids is likely to influence embryo implantation, this study was conducted to investigate the effects of dietary omega-3 and -6 fatty acids on implantation rate as well as uterine phospholipid fatty acids composition during mice pre-implantation period. Sixty female mice were randomly distributed into:1) control (standard pellet), 2) omega-3 (standard pellet + 10% w/w of omega-3 fatty acids) and 3) omega-6 (standard pellet + 10% w/w of omega-6 fatty acids). Uterine phospholipid fatty acid composition during the pre-implantation window (days 1-5 of pregnancy) was analyzed using gas-chromatography. The implantation rate on the fifth day of pregnancy was also determined. Our results showed that on days 1, 2 and 3 of pregnancy, the levels of arachidonic acid (ARA) as well as total omega-6 fatty acids were significantly higher and the levels of linolenic acid and total omega-3 fatty acids were statistically lower in the omega-6 group compared to the omega-3 group (p omega-6 fatty acids, and poly-unsaturated fatty acids levels were significantly different between the two dietary supplemented groups (p omega-6 fatty acids, especially ARA, with the implantation rate. The present study showed that diets rich in omega-3 and -6 fatty acids could differently modify uterine phospholipid fatty acid composition and uterine levels of phospholipid ARA, and that the total omega-6 fatty acids had a positive association with the implantation rate. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Whole genome amplification in preimplantation genetic diagnosis*

    Science.gov (United States)

    Zheng, Ying-ming; Wang, Ning; Li, Lei; Jin, Fan

    2011-01-01

    Preimplantation genetic diagnosis (PGD) refers to a procedure for genetically analyzing embryos prior to implantation, improving the chance of conception for patients at high risk of transmitting specific inherited disorders. This method has been widely used for a large number of genetic disorders since the first successful application in the early 1990s. Polymerase chain reaction (PCR) and fluorescent in situ hybridization (FISH) are the two main methods in PGD, but there are some inevitable shortcomings limiting the scope of genetic diagnosis. Fortunately, different whole genome amplification (WGA) techniques have been developed to overcome these problems. Sufficient DNA can be amplified and multiple tasks which need abundant DNA can be performed. Moreover, WGA products can be analyzed as a template for multi-loci and multi-gene during the subsequent DNA analysis. In this review, we will focus on the currently available WGA techniques and their applications, as well as the new technical trends from WGA products. PMID:21194180

  18. Preimplantation genetic diagnosis for Down syndrome pregnancy

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yu; XU Chen-ming; ZHU Yi-min; DONG Min-yue; QIAN Yu-li; JIN Fan; HUANG He-feng

    2007-01-01

    Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results:Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome previously, PGD can be considered, and has been shown to be an effective strategy.

  19. Preimplantation Genetic Diagnosis in Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    N. F. Vlahos

    2013-01-01

    Full Text Available Marfan syndrome (MFS is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (COH, in vitro fertilization (IVF combined with preimplantation genetic diagnosis (PGD, and a singleton pregnancy with positive fetal heart rate was revealed. At 34 weeks’ gestation she delivered vaginally a healthy premature male infant weighting 2440 gr. The patient remained asymptomatic during pregnancy, delivery, and 3 months postpartum. It is has to be mentioned that the availability of PGD is essential to prevent the transmission of disease to the next generation.

  20. Preimplantation genetic diagnosis with HLA matching.

    Science.gov (United States)

    Rechitsky, Svetlana; Kuliev, Anver; Tur-Kaspa, Illan; Morris, Randy; Verlinsky, Yury

    2004-08-01

    Preimplantation genetic diagnosis (PGD) has recently been offered in combination with HLA typing, which allowed a successful haematopoietic reconstitution in affected siblings with Fanconi anaemia by transplantation of stem cells obtained from the HLA-matched offspring resulting from PGD. This study presents the results of the first PGD practical experience performed in a group of couples at risk for producing children with genetic disorders. These parents also requested preimplantation HLA typing for treating the affected children in the family, who required HLA-matched stem cell transplantation. Using a standard IVF procedure, oocytes or embryos were tested for causative gene mutations simultaneously with HLA alleles, selecting and transferring only those unaffected embryos, which were HLA matched to the affected siblings. The procedure was performed for patients with children affected by Fanconi anaemia (FANC) A and C, different thalassaemia mutations, Wiscott-Aldrich syndrome, X-linked adrenoleukodystrophy, X-linked hyperimmunoglobulin M syndrome and X-linked hypohidrotic ectodermal displasia with immune deficiency. Overall, 46 PGD cycles were performed for 26 couples, resulting in selection and transfer of 50 unaffected HLA-matched embryos in 33 cycles, yielding six HLA-matched clinical pregnancies and the birth of five unaffected HLA-matched children. Despite the controversy of PGD use for HLA typing, the data demonstrate the usefulness of this approach for at-risk couples, not only to avoid the birth of affected children with an inherited disease, but also for having unaffected children who may also be potential HLA-matched donors of stem cells for treatment of affected siblings.

  1. 42 CFR 137.136 - What happens if the agency takes no action within the 45 day review period (or any extensions...

    Science.gov (United States)

    2010-10-01

    ... HUMAN SERVICES TRIBAL SELF-GOVERNANCE Final Offer § 137.136 What happens if the agency takes no action within the 45 day review period (or any extensions thereof)? The final offer is accepted automatically by operation of law. ...

  2. Active caspase-3 and ultrastructural evidence of apoptosis in spontaneous and induced cell death in bovine in vitro produced pre-implantation embryos

    DEFF Research Database (Denmark)

    Gjørret, Jakob O.; Fabian, Dusan; Avery, Birthe

    2007-01-01

    In this study we investigated chronological onset and involvement of active caspase-3, apoptotic nuclear morphology, and TUNEL-labeling, as well as ultrastructural evidence of apoptosis, in both spontaneous and induced cell death during pre-implantation development of bovine in vitro produced...... microscopy in both treated and untreated blastocysts. Activation of caspase-3 is likely involved in both spontaneous and induced apoptosis in bovine pre-implantation embryos, and immunohistochemical staining of active caspase-3 may be used in combination with other markers to identify apoptosis in pre...... embryos. Pre-implantation embryos (2-cell to Day 8 blastocysts) were cultured with either no supplementation (untreated) or with 10 µM staurosporine for 24 hr (treated). Embryos were subjected to immunohistochemical staining of active caspase-3, TUNEL-reaction for detection of DNA degradation and DAPI...

  3. Factors affecting the gene expression of in vitro cultured human preimplantation embryos

    NARCIS (Netherlands)

    Mantikou, E.; Jonker, M.J.; Wong, K.M.; van Montfoort, A.P.A.; de Jong, M.; Breit, T.M.; Repping, S.; Mastenbroek, S.

    2016-01-01

    STUDY QUESTION: What is the relative effect of common environmental and biological factors on transcriptome changes during human preimplantation development? SUMMARY ANSWER: Developmental stage and maternal age had a larger effect on the global gene expression profile of human preimplantation

  4. In vitro culture of pre-implanted mouse embryos. A model system for studying combined effects

    International Nuclear Information System (INIS)

    Streffer, C.; Beuningen, D. van; Molls, M.; Pon, A.; Schulz, S.; Zamboglou, N.

    1978-01-01

    Studies on combined effects, e.g. interaction between chemical toxicants and ionizing radiation, are difficult to perform, as they are dependent on many factors (substance concentration, radiation dose, sequence of treatments, etc.). In order to obtain data from such studies it is necessary to establish a comparatively simple experimental model system. We have established such a model system by studying combined effects on pre-implanted mouse embryos cultured in vitro. This system has the following advantages: (1) The embryos can be cultivated for several days in vitro; (2) Their physiological intactness can be tested; and (3) Cell proliferation, cell killing and chromosomal damage can be investigated comparatively easily. The embryos are isolated at the 2-cell stage and incubated in a culture medium in vitro. The development of the embryos is followed under the microscope until the development of blastocysts or the hatching of blastocysts is observed. These blastocysts can be transplanted to fostered mice and the development of normal animals determined. The proliferation kinetics can be studied easily, and the methods are described. A method has also been developed to measure the DNA content of individual cells by microscope fluorometry. After treatment of the embryos with ionizing radiation or drugs the release of micronuclei has been observed from the cell nuclei, which is an expression for chromosomal damage. Substances or radionuclides can be added to the culture medium or external irradiation can be performed during the culture period. Also the combined effects of radiation and heating can be studied. The effects of X-rays and tritiated compounds have also been investigated. The combined effects of radiation with antibiotics such as actinomycin D, and environmental toxicants such as lead, have been determined. The system described has been useful to evaluate cytological, teratogenic and cytogenetic effects

  5. Preimplantation genetic diagnosis by fluorescence in situ hybridization of reciprocal and Robertsonian translocations.

    Science.gov (United States)

    Chen, Chun-Kai; Wu, Dennis; Yu, Hsing-Tse; Lin, Chieh-Yu; Wang, Mei-Li; Yeh, Hsin-Yi; Huang, Hong-Yuan; Wang, Hsin-Shin; Soong, Yung-Kuei; Lee, Chyi-Long

    2014-03-01

    The presence of reciprocal and Robertsonian chromosomal rearrangement is often related to recurrent miscarriage. Using preimplantation genetic diagnosis, the abortion rate can be decreased. Cases treated at our center were reviewed. A retrospective analysis for either Robertsonian or reciprocal translocations was performed on all completed cycles of preimplantation genetic diagnosis at our center since the first reported case in 2004 until the end of 2010. Day 3 embryo biopsies were carried out, and the biopsied cell was checked by fluorescent in situ hybridization using relevant informative probes. Embryos with a normal or balanced translocation karyotype were transferred on Day 4. Thirty-eight preimplantation genetic diagnosis cycles involving 17 couples were completed. A total of 450 (82.6%) of the total oocytes were MII oocytes, and 158 (60.0%) of the two-pronuclei embryos were biopsied. In 41.4% of the fluorescent in situ hybridization analyses, the results were either normal or balanced. Embryos were transferred back after 21 cycles. Three babies were born from Robertsonian translocation carriers and another two from reciprocal translocation carriers. The miscarriage rate was 0%. Among the reciprocal translocation group, the live delivery rate was 8.3% per ovum pick-up cycle and 18.2% per embryo transfer cycle. Among the Robertsonian translocation group, the live delivery rate was 14.3% per ovum pick-up cycle and 20.0% per embryo transfer cycle. There is a trend whereby the outcome for Robertsonian translocation group carriers is better than that for reciprocal translocation group carriers. Aneuploidy screening may possibly be added in order to improve the outcome, especially for individuals with an advanced maternal age. The emergence of an array-based technology should help improve this type of analysis. Copyright © 2014. Published by Elsevier B.V.

  6. Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy.

    Science.gov (United States)

    Sermon, Karen

    2017-01-01

    Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer. Areas covered: PGD has followed the tremendous evolution in genetic analysis, with only a slight delay due to adaptations for diagnosis on small samples. Currently, next generation sequencing combining chromosome with single-base pair analysis is on the verge of becoming the golden standard in PGD and PGT-A. Papers highlighting the different steps in the evolution of PGD/PGT-A were selected. Expert commentary: Different methodologies used in PGD/PGT-A with their pros and cons are discussed.

  7. Flow cytometric examination of apoptotic effect on brain tissue in postnatal period created by intrauterine oxcarbazepine and gabapentin exposure.

    Science.gov (United States)

    Erisgin, Z; Tekelioglu, Y

    For epileptics, pregnancy contains the balance between no seizure period and antiepileptic use having the least teratogenicity risk. The purpose is to analyse with flow cytometry the apoptotic effects on postnatal brain tissue caused by prenatal use of second generation antiepileptics oxcarbazepine (OXC) and gabapentin (GBP) having different effect mechanisms. 30 (n = 5 each group) Wistar albino male rats (45-days-old) are used. First 3 groups are exposed to OXC (100 mg/kg/day), GBP (50 mg/kg/day), and saline, respectively on the 1st-5th prenatal days (preimplantation-implantation period) while the second 3 groups are exposed to the same substances on the 6th-15th prenatal days (organogenesis), respectively. After sacrifice, brain tissue samples were made into suspension with mechanic and enzymatic digestion and examined with flow cytometry. While apoptosis rate appeared high in rats exposed to OXC on the 1st-5th (p effect in three treatment groups, while difference was not significant for PSS and GBP groups (p = 0.847 and p = 0.934), apoptosis rate was significantly high for OXC on the 6th-15th days compared to the 1st-5th days (p < 0.001). It is observed that the use of OXC causes neurotoxicity during preimplantation, implantation and, especially, organogenesis period (neurogenesis) whereas GBP does not (Fig. 3, Ref. 32).

  8. Seminal Fluid Regulates Accumulation of FOXP3(+) Regulatory T Cells in the Preimplantation Mouse Uterus Through Expanding the FOXP3(+) Cell Pool and CCL19-Mediated Recruitment

    NARCIS (Netherlands)

    Guerin, Leigh R.; Moldenhauer, Lachlan M.; Prins, Jelmer R.; Bromfield, John J.; Hayball, John D.; Robertson, Sarah A.

    Regulatory T (Treg) cells facilitate maternal immune tolerance of the semiallogeneic conceptus in early pregnancy, but the origin and regulation of these cells at embryo implantation is unclear. During the preimplantation period, factors in the seminal fluid delivered at coitus cause expansion of a

  9. Daily Distribution of Carbohydrate, Protein and Fat Intake in Elite Youth Academy Soccer Players Over a 7-day Training Period

    OpenAIRE

    Naughton, Robert; Drust, Barry; O’Boyle, Andy; Morgans, Ryland; Abayomi, Julie; Davies, Ian G.; Morton, James P.; Mahon, Elizabeth

    2016-01-01

    While traditional approaches to dietary analysis in athletes have focused on total daily energy and macronutrient intake, it is now thought that daily distribution of these parameters can also influence training adaptations. Using seven-day food diaries, we quantified the total daily macronutrient intake and distribution in elite youth soccer players from the English Premier League in U18 (n=13), U15/16 (n=25) and U13/14 squads (n=21). Total energy (43.1±10.3, 32.6±7.9, 28.1±6.8 kcal∙kg-1∙day...

  10. Walnut consumption increases satiation but has no effect on insulin resistance or the metabolic profile over a 4-day period.

    Science.gov (United States)

    Brennan, Aoife M; Sweeney, Laura L; Liu, Xiaowen; Mantzoros, Christos S

    2010-06-01

    Obesity and diabetes have been associated with increased consumption of highly processed foods, and reduced consumption of whole grains and nuts. It has been proposed, mainly on the basis of observational studies, that nuts may provide superior satiation, may lead to reduced calorie consumption, and may decrease the risk of type 2 diabetes; but evidence from randomized, interventional studies is lacking. A total of 20 men and women with the metabolic syndrome participated in a randomized, double-blind, crossover study of walnut consumption. Subjects had two 4-day admissions to the clinical research center where they were fed an isocaloric diet. In addition, they consumed shakes for breakfast containing either walnuts or placebo (shakes were standardized for calories, carbohydrate, and fat content). Appetite, insulin resistance, and metabolic parameters were measured. We found an increased level of satiety (overall P value = 0.0079) and sense of fullness (P = 0.05) in prelunch questionnaires following the walnut breakfast as compared to the placebo breakfast, with the walnut effect achieving significance on day 3 and 4 (P = 0.02 and P = 0.03). We did not find any change in resting energy expenditure, hormones known to mediate satiety, or insulin resistance when comparing the walnut vs. placebo diet. Walnut consumption over 4 days increased satiety by day 3. Long-term studies are needed to confirm the physiologic role of walnuts, the duration of time needed for these effects to occur, and to elucidate the underlying mechanisms.

  11. Daily Distribution of Carbohydrate, Protein and Fat Intake in Elite Youth Academy Soccer Players Over a 7-Day Training Period.

    Science.gov (United States)

    Naughton, Robert J; Drust, Barry; O'Boyle, Andy; Morgans, Ryland; Abayomi, Julie; Davies, Ian G; Morton, James P; Mahon, Elizabeth

    2016-10-01

    While traditional approaches to dietary analysis in athletes have focused on total daily energy and macronutrient intake, it is now thought that daily distribution of these parameters can also influence training adaptations. Using 7-day food diaries, we quantified the total daily macronutrient intake and distribution in elite youth soccer players from the English Premier League in U18 (n = 13), U15/16 (n = 25) and U13/14 squads (n = 21). Total energy (43.1 ± 10.3, 32.6 ± 7.9, 28.1 ± 6.8 kcal·kg -1 ·day -1 ), CHO (6 ± 1.2, 4.7 ± 1.4, 3.2 ± 1.3 g·kg - 1 ·day -1 ) and fat (1.3 ± 0.5, 0.9 ± 0.3, 0.9 ± 0.3 g·kg- 1 ·day -1 ) intake exhibited hierarchical differences (p U15/16 > U18. In addition, CHO intake in U18s was lower (p lunch (~0.5 g·kg -1 ) > breakfast (~0.3 g·kg -1 ). We conclude elite youth soccer players do not meet current CHO guidelines. Although daily protein targets are achieved, we report a skewed daily distribution in all ages such that dinner > lunch > breakfast. Our data suggest that dietary advice for elite youth players should focus on both total daily macronutrient intake and optimal daily distribution patterns.

  12. Replacement of corn with babassu mesocarp flour in balanced rations for broilers in the period from 1 to 21 days

    Directory of Open Access Journals (Sweden)

    Flávia Luzia Rodrigues Fonseca

    2015-06-01

    Full Text Available The objective of this study was to evaluate the technical and economic feasibility of partial replacement of corn with babassu mesocarp flour in diets for broilers from one to 21 days of age. Two hundred male day-old chicks, from the Cobb 500® line, were distributed in a completely randomized design with four treatments (0%, 10%, 20% and 30% replacement of maize flour with the babassu mesocarp and five replicates were used comprising ten birds. Were evaluated performance (weight gain, feed intake, feed conversion and water intake, organ biometrics, metabolizability coefficients of dry matter (MCDM, crude protein (MCCP and gross energy (MCGE and cost of feeding diets containing babassu mesocarp flour (BMF. It was observed that the substitution of corn with BMF negatively influenced (P 0.05 the relative weights of the carcass, bursa, spleen, heart, gizzard or liver, nor the relative weight or length of the small intestine. The lower cost of feed per kg of weight gain was obtained with the diet containing 10% corn replacement with BMF, which resulted in a higher gross margin in relation to food. The replacement of corn with BMF in diets for broilers from one to 21 days of age proved to be technically feasible in 10%.

  13. Physical and Behavioral Measures that Predict Cats’ Socialization in an Animal Shelter Environment during a Three Day Period

    Directory of Open Access Journals (Sweden)

    Margaret Slater

    2013-12-01

    Full Text Available Animal welfare organizations typically take in cats with unknown levels of socialization towards humans, ranging from unsocialized cats well-socialized but lost pets. Agencies typically determine the socialization status and disposition options of cats within three days, when even a well-socialized pet may be too frightened of the unfamiliar surroundings to display its typical behavior. This is the third part of a three-phase project to develop and evaluate a reliable and valid tool to predict cats’ socialization levels. We recruited cats from the full spectrum of socialization and, using information from the cats’ caregivers regarding typical behavior toward familiar and unfamiliar people, assigned each cat to a Socialization Category. This information was compared to the cats’ behavior during three days of structured assessments conducted in a shelter-like setting. The results of logistic regression modeling generated two models using assessments from the mornings of the second and third day, focusing on predicting shyer or more aloof but socialized cats. Using the coefficients from each of these models, two sets of points were calculated which were useful in differentiating More and Less Socialized cats. In combination with key socialized behaviors, these points were able to fairly accurately identify More and Less Socialized cats.

  14. Neonatal outcome after preimplantation genetic diagnosis.

    Science.gov (United States)

    Eldar-Geva, Talia; Srebnik, Naama; Altarescu, Gheona; Varshaver, Irit; Brooks, Baruch; Levy-Lahad, Ephrat; Bromiker, Ruben; Schimmel, Michael S

    2014-10-01

    To examine whether embryo biopsy for preimplantation genetic diagnosis (PGD) influences neonatal outcomes. Prospective follow-up cohort. Tertiary university-affiliated medical center. 242 children born after PGD, 242 children born after intracytoplasmic sperm injection (ICSI) (158 singletons and 42 twins pairs in each group), and 733 children born after a spontaneous conception (SC) (493 singletons, 120 twins pairs), matched for maternal age, parity, and body mass index. None. Gestational age, birth weight, prematurity (<37 and <34 weeks), low birth weight (<2,500 g, very low birth weight, <1,500 g), and intrauterine growth restriction (<10th percentile for gestational age). For singletons, the mean birth weight was higher after SC compared with ICSI but not compared with PGD. Mean gestational ages were lower after PGD and ICSI compared with SC. The low birth weight and intrauterine growth restriction rates were 4.4%, 12.0%, and 5.7% and 5.1%, 9.5%, and 5.5% for PGD, ICSI, and SC, respectively. Similar results were found when controlled for the number of embryos transferred and cryopreservation. The results for twins exhibited similar but less statistically significant trends. Polar body and blastomere biopsies provided similar outcomes. Embryo biopsy itself did not cause intrauterine growth restriction or low birth weight compared with SC, despite lower gestational ages with PGD. The worsened outcomes in ICSI compared with PGD pregnancies may be due to the infertility itself. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  15. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

    Directory of Open Access Journals (Sweden)

    Harvey J. Stern

    2014-03-01

    Full Text Available Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH, to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology.

  16. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

    Science.gov (United States)

    Stern, Harvey J.

    2014-01-01

    Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD) has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH), to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology. PMID:26237262

  17. Effect of the fluid core on changes in the length of day due to long period tides

    Science.gov (United States)

    Wahr, J. M.; Smith, M. L.; Sasao, T.

    1981-01-01

    The long period luni-solar tidal potential is known to cause periodic changes in the earth's rotation rate. It is found that the effect of a dissipationless fluid outer core is to reduce the amplitudes of these tidal perturbations by about 11 percent. When the fluid core effect is added to Agnew and Farrell's (1978) estimate of the effect of an equilibrium ocean, the result is in accord with observation. The effects of dissipative processes within the fluid core are also examined. Out-of-phase perturbations are found which could be as large as about 10 ms at 18.6 yr. It is concluded, however, that the poorly understood decade fluctuations in the earth's rotation rate will prohibit observation of this effect.

  18. The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents.

    Science.gov (United States)

    Cunningham, Jenny; Goldsmith, Lesley; Skirton, Heather

    2015-02-01

    Preimplantation genetic diagnosis was developed as an alternative to prenatal diagnosis for couples with a family history of genetic disease. After in vitro fertilization, the embryos can be analysed to ensure that only healthy embryos are transferred to the uterus. Past studies have suggested that couples who wish to avoid having a child with an inherited genetic condition look favourably on preimplantation genetic diagnosis as it prevents the need for termination of pregnancy following prenatal diagnosis of an affected fetus. However, it is important to understand the experiences of couples who have used or consider using this technique. To ascertain the current evidence base on this topic, we conducted a mixed methods systematic review. Four databases were searched for relevant peer-reviewed papers published between 2000 and 2013. Of 453 papers, nine satisfied the inclusion criteria and were assessed for quality. Results of nine papers were analysed and synthesised using a narrative approach. Three main themes emerged: (1) motivating factors; (2) emotional labour; (3) choices and uncertainty. The review has identified an emotional and difficult journey for couples pursuing preimplantation genetic diagnosis. While use of the technique gives hope to families who wish to prevent transmission of a genetic disease this is not without hard decision-making and periods of uncertainty. Lack of information was perceived as a barrier to access this reproductive option. Recommendations include: training and education in genetics for midwives who are the first point of contact for pregnant women; clinics to use a decision-making tool to emphasise the uncertainty involved in PGD and improved communication and psychological support to couples. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Period-dependent Associations between Hypotension during and for Four Days after Noncardiac Surgery and a Composite of Myocardial Infarction and Death

    DEFF Research Database (Denmark)

    Sessler, Daniel I; Meyhoff, Christian S; Zimmerman, Nicole M

    2018-01-01

    BACKGROUND: The relative contributions of intraoperative and postoperative hypotension to perioperative morbidity remain unclear. We determined the association between hypotension and a composite of 30-day myocardial infarction and death over three periods: (1) intraoperative, (2) remaining day.......83 (98.3% CI, 1.26, 6.35; P = 0.002) in patients with hypotension during the subsequent four days of hospitalization. CONCLUSIONS: Clinically important hypotension-a potentially modifiable exposure-was significantly associated with a composite of myocardial infarction and death during each of three...

  20. Antigen presenting cells costimulatory signaling during pre-implantation pregnancy 

    Directory of Open Access Journals (Sweden)

    Anna Sławek

    2012-09-01

    Full Text Available  Success of pregnancy depends on many factors. Three phenomena inducing immune tolerance against semi-allogeneic conceptus may play a crucial role in the pre-implantation period of pregnancy: influence of sex hormones in sex cycle, presence of oocyte or embryo and the presence of semen in the female reproductive tract. On the other hand dendritic cells are the most effective antigen-presenting cells in regulation of immune phenomena and also are considered as potent participants in inducing immune tolerance in the pregnancy. They communicate with T cells in cell contact-dependent manner or via cytokines. During cell-cell contacts, costimulatory molecules play a key role and their expression is often dependent on cytokines milieu. Both costimulatory molecules and cytokines influence generation of T regulatory cells. Interactions of these molecules are closely related. In this paper we would like to pay attention to the importance of antigen presenting cells costimulatory potency in immune regulation during a pre-implantation period of pregnancy.

  1. 42 CFR 137.137 - If the 45 day review period or extension thereto, has expired, and the Tribes offer is deemed...

    Science.gov (United States)

    2010-10-01

    ..., has expired, and the Tribes offer is deemed accepted by operation of law, are there any exceptions to... SERVICES INDIAN HEALTH SERVICE, DEPARTMENT OF HEALTH AND HUMAN SERVICES TRIBAL SELF-GOVERNANCE Final Offer § 137.137 If the 45 day review period or extension thereto, has expired, and the Tribes offer is deemed...

  2. Fermentation of liquid coproducts and liquid compound diets: Part 2. Effects on pH, acid-binding capacity, organic acids and ethanol during a 6-day period

    NARCIS (Netherlands)

    Scholten, R.H.J.; Rijnen, M.M.J.A.; Schrama, J.W.; Boer, H.; Peet-Schwering, van der C.M.C.; Hartog, den L.A.; Vesseur, P.C.

    2001-01-01

    The effects of a 6-day storage period on changes in pH, acid-binding capacity, level of organic acids and ethanol of three liquid coproducts [liquid wheat starch (LWS), mashed potato steam peel (PSP) and cheese whey (CW)] and two liquid compound diets [liquid grower diet (LGD) and liquid finisher

  3. Period3 VNTR polymorphism influences the time-of-day pain onset of acute myocardial infarction with ST elevation.

    Science.gov (United States)

    Lipkova, Jolana; Splichal, Zbynek; Bienertova-Vasku, Julie Anna; Jurajda, Michal; Parenica, Jiri; Vasku, Anna; Goldbergova, Monika Pavkova

    2014-10-01

    It is well established that the incidence and infarct size in acute myocardial infarction (AMI) is subject to circadian variations. At the molecular level, circadian clocks in distinct cells, including cardiomyocytes, generate 24-h cycles of biochemical processes. Possible imbalance or impairment in the cell clock mechanism may alter the cardiac metabolism and function and increase the susceptibility of cardiovascular diseases. One of the key components of the human clock system PERIOD3 (PER3) has been recently demonstrated to affect circadian expression of various genes in different tissues, including the heart. The variable number tandem repeat (VNTR) polymorphism (rs57875989) in gene Period3 (Per3) is related to multiple phenotypic parameters, including diurnal preference, sleep homeostasis, infection and cancer. The aim of our study was to investigate the effect of this polymorphism in AMI with ST elevation (STEMI). The study subjects (314 patients of Caucasian origin with STEMI, and 332 healthy controls) were genotyped for Per3 VNTR polymorphism using an allele-specific polymerase chain reaction. A gender difference in circadian rhythmicity of pain onset was observed with significant circadian pattern in men. Furthermore, the Per3(5/5) variant carriers were associated with higher levels of interleukin-6, B-type natriuretic peptide and lower vitamin A levels. By using cosinor analysis we observed different circadian distribution patterns of AMI onset at the level of genotype and allelic frequencies. Genotypes with at least one 4-repeat allele (Per3(4/5) and Per3(4/4)) (N = 264) showed remarkable circadian activity in comparison with Per3(5/5) (N = 50), especially in men. No significant differences in genotype and/or allele frequencies of Per3 VNTR polymorphism were observed when comparing STEMI cases and controls. Our results indicate that the Per3 VNTR may contribute to modulation of cardiac functions and interindividual differences in development and

  4. Attitude towards pre-implantation genetic diagnosis for hereditary cancer

    NARCIS (Netherlands)

    Lammens, Chantal; Bleiker, Eveline; Aaronson, Neil; Vriends, Annette; Ausems, Margreet; Jansweijer, Maaike; Wagner, Anja; Sijmons, Rolf; van den Ouweland, Ans; van der Luijt, Rob; Spruijt, Liesbeth; Gómez García, Encarna; Ruijs, Mariëlle; Verhoef, Senno

    2009-01-01

    The use of pre-implantation genetic diagnosis (PGD) for hereditary cancer is subject to on-going debate, particularly among professionals. This study evaluates the attitude towards PGD and attitude-associated characteristics of those concerned: family members with a hereditary cancer predisposition.

  5. Sexing bovine pre-implantation embryos using the polymerase ...

    African Journals Online (AJOL)

    Yomi

    2012-03-06

    Mar 6, 2012 ... with pregnancy follow-up to October 2008. Hum. Reprod. 25(11):. 2685-2707. Harper JC, Sengupta SB (2012) Preimplantation genetic diagnosis: State of the ART 2011. Hum. Genet. 131(2): 175-186. Hasler JF (2003). The current status and future of commercial embryo transfer in cattle. Anim. Reprod. Sci.

  6. [Preimplantation genetic diagnosis in order to choose a saviour sibling].

    Science.gov (United States)

    Shenfield, F

    2005-10-01

    Preimplantation genetic diagnosis with HLA matching in order to bring about the birth of a saviour sibling is not mere instrumentalisation of the future child, as long as the post natal test is used and the future child will be looked after with the same love and care as if he/she had not been selected as well for the purpose.

  7. The Preimplantation Genetic Diagnosis: Legal Aspects in the Spanish Law

    Directory of Open Access Journals (Sweden)

    Marina Moya González

    2018-03-01

    Full Text Available This paper analyses the preimplantation genetic diagnosis (PGD in Spain, and the legal aspects. It exposes the technical characteristics, as well as the ethical and social consequences. It compares the different rules of law about assisted human reproduction techniques in Spain, and those in some European countries.

  8. Preimplantation genetic diagnosis: development and regulation.

    Science.gov (United States)

    Thomas, C

    2006-06-01

    Pre-implantation genetic diagnosis (PGD) is used to biopsy and analyse embryos created through in vitro fertilisation (IVF) to avoid implanting an embryo affected by a mutation or chromosomal abnormality associated with serious illness. It reduces the chance that the parents will be faced with a difficult decision of whether to terminate the pregnancy, if the disorder is detected during the course of gestation. PGD is widely accepted for this purpose although there have been suggestions that such procedures have the effect of de-valuing persons in the community with disabilities. PGD potentially has other more controversial purposes, including the selection of the sex of the baby for personal preferences such as balancing the family, rather than to avoid a sex-linked disorder. Recently PGD has become available to create a donor child who is Human Leukocyte Antigen (HLA) matched with a sibling in need of stem cell transplant. In most cases the intention is to utilise the cord blood. However, an HLA-matched child could potentially be required to be a donor of tissues and organs throughout life. This may arise should the initial cord blood donation fail for any one of several reasons, such as inadequate cord blood cell dose, graft failure after cord blood transplant, or the recipient child experiencing a recurrence of the original illness after transplant. However, such on-going demands could also arise if a HLA-matched child was fortuitously conceived by natural means. As such, the issue is not PGD, but rather whether to harvest bone marrow or a solid organ from a child. This raises the question of whether there should be limits and procedures to protect such children from exploitation until they achieve sufficient competence to be able to make mature and autonomous decisions about whether to donate, even if the consequence may in some cases be that it is too late to save the sibling. Additionally, the parents may not be able to make a dispassionate decision, when

  9. A double-blind assessment of additive intolerance in children using a 12 day challenge period at home.

    Science.gov (United States)

    Wilson, N; Scott, A

    1989-05-01

    Alleged food-additive intolerance (respiratory, dermatological, behavioural or abdominal) was assessed in 19 children using daily challenge drinks of either, base product alone, base product plus sunset yellow/tartrazine, or base product plus sodium metabisulphite/sodium benzoate. The same type of drink was given for 12 days, double-blind and in random order. During the trial the children were maintained on an additive-free diet under supervision. Diary cards were used to record symptoms and medication usage. If there was an apparent association between symptoms and drink ingredient the trial was repeated, again double-blind. Additive intolerance was confirmed by a consistent deterioration of symptoms in only three children. In one, urticaria was induced by the colourings, in another extremely abnormal behaviour was induced by the preservatives and a third child was only free of asthma and abdominal pain on placebo. This form of individual trial, using 12 daily drinks, overcomes some of the objections to a single challenge study. Despite this, intolerance to the additives was only confirmed in 3/19 children in whom it had been believed to occur.

  10. Certainties, Question Marks and Voids in the Present-day Data Concerning the Rotation Period of Asteroids

    Science.gov (United States)

    Alvarez, Eduardo Manuel

    2017-07-01

    There are more than 700,000 asteroids with well-defined orbits. However, the LCDB data base (version Feb 2017) contains rotation period data for only 17,437 asteroids and yet, more than two thirds of those reported measurements still may be uncertain by 30% (U = 2) and another 10% may be completely wrong (U = 1). It should be possible to know the characteristics of asteroid spins without measuring every last one of them, on condition that our sample (1) is unbiased, and (2) it properly includes odd or outlier objects. In principle, U = 2 data should be good enough for both statistical analysis and for identifying oddballs. Wide-field data now comprise the majority ( 63%) of spin rates we have. However, due to the overwhelming volume of W-F data, their corresponding reliability is in practice almost impossible to assess on a case-by-case basis, so that a nominal U = 2 has been basically assigned to them. This poses the question whether including W-F data actually improves or degrades statistical analysis performed using only the smaller but more carefully controlled data from the F-D file. This paper shows that for size ranges where both F-D and W-F data samples contains at least 100 values, the W-F mean significantly differs from the F-D value (with only one exception for the narrow range 1 limitations are reasonably characterized.

  11. Pharmacokinetics of butorphanol delivered with an osmotic pump during a seven-day period in common peafowl (Pavo cristatus).

    Science.gov (United States)

    Clancy, Meredith M; KuKanich, Butch; Sykes, John M

    2015-12-01

    To determine pharmacokinetics of butorphanol delivered via osmotic pumps in common peafowl (Pavo cristatus) as a method for analgesic administration to avian species. 14 healthy adult male common peafowl. A preliminary experiment was conducted with 2 birds to establish time point and concentration requirements. Then, the remaining 12 birds were anesthetized, and 2 osmotic pumps containing butorphanol (volume, 2 mL; mean dosage, 247 μg/kg/h) were implanted subcutaneously in each bird for 7 days prior to removal. Blood samples were collected before pump implantation (time 0); 3, 6, 12, 24, 48, 72, 96, 120, 144, and 168 hours after pump implantation; and 3 and 6 hours after pump removal. Plasma butorphanol concentrations were measured via liquid chromatography-mass spectrometry. Plasma concentrations peaked (mean, 106.4 μg/L; range, 61.8 to 133.0 μg/L) at a mean of 39.0 hours, with no evidence of sedation in any bird. After pump removal, butorphanol was rapidly eliminated (half-life, 1.45 hours; range, 1.31 to 1.64 hours; n = 5). Mean clearance per fraction of dose absorbed was 2.89 L/kg/h (range, 2.00 to 5.55 L/kg/h). Mean amount of time the plasma butorphanol concentration was ≥ 60 μg/L was 85.6 hours (range, 3.5 to 155.3 hours). Plasma concentrations of butorphanol in common peafowl were maintained at or above reported efficacious analgesic concentrations. This study established a method for administering analgesics to avian patients without the need for frequent handling or injections. Use of these osmotic pumps may provide options for avian analgesia.

  12. Three-dimensional imaging of human cutaneous forearm bite marks in human volunteers over a 4 day period.

    Science.gov (United States)

    de Sainte Croix, M M; Gauld, D; Forgie, A H; Lowe, R

    2016-05-01

    Human bite marks are often sustained during sexual, domestic or child abuse. Currently, analysis of these marks involves digital photography techniques along with an expert forensic odontologist opinion. Photographs often focus closely on the bite mark and give little context to the anatomical location of the injury. Due to variation in camera models and expertise of the photographer, photograph quality can affect its interpretation. Additionally, it can sometimes be days between injury and examination, allowing the injury pattern and colour to alter, making it harder to analyse. To investigate if a 3D imaging technique, creating a time-lapse image of a bite mark in three dimensions, can provide context to the injury in terms of nature and location, and also allow analysis of the change in appearance of a bite mark over time. Participants had an experimental bite mark produced on their forearm by dental casts mounted on a dental articulator. The forearms were photographed immediately following the bite, and at intervals of 3, 6, 24, 48, 72 and 96 h. A DI3D(®) (Dimensional Imaging 3D) photogrammetry system and Autodesk Maya 2015(®) software was used to create a 3D animation from the images obtained. The clearest, long lasting bite mark injuries were selected for animation, enabling the 3D imaging technique to be used optimally. 3D time-lapse animations were successfully created with the ability to be viewed on most electronic devices. With further refinement this technique could be valuable in a number of areas. We anticipate animations produced in this way to have significant benefit to the presentation of photographic evidence in a court setting, and in age estimation of injuries. Copyright © 2016 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  13. Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.

    Science.gov (United States)

    Borgulova, I; Putzova, M; Soldatova, I; Krautova, L; Pecnova, L; Mika, J; Kren, R; Potuznikova, P; Stejskal, D

    2015-01-01

    Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female embryo in X-linked recessive disorders. The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis. We wanted to accentuate the advantage indirect analysis of PGD using multiple displacement amplification (MDA) followed by short tandem repeat (STR) analysis. We present forty-six PGD cycles, including pre-case haplotyping (PGH) panel, for fifteen X-linked diseases. Embryo transfer was made thirty-eight times and gravidity was confirmed in thirteen female probands with a success rate of pregnancy calculated at 42 %. PGD procedure using MDA amplification followed by STR analysis provides help in identifying genetic defects within embryos prior to implantation. The reliability of the method was also supported by high pregnancy rate compared to other publications, which commonly achieved a 30-35 % success rate (Tab. 2, Fig. 1, Ref. 33).

  14. In vitro storage characteristics of platelet concentrates suspended in 70% SSP+(TM) additive solution versus plasma over a 14-day storage period.

    Science.gov (United States)

    Saunders, C; Rowe, G; Wilkins, K; Holme, S; Collins, P

    2011-08-01

    The non-paired two-arm study compared the in vitro storage characteristics of platelets suspended as concentrates in either 100% plasma or a mixture of additive solution (SSP+™, MacoPharma, Mouveaux, France) and autologous plasma in a 70:30 ratio over a 14-day storage period. The buffy coat-derived pooled platelet concentrates were sampled on days 1, 2, 3, 6, 8, 10 and 14 and tests performed to determine platelet morphology, function, metabolism, activation and apoptosis-like activity. Swirling remained strong (score=3) in SSP+™, whilst scores of 1 and 0 were noted for plasma units by end of storage. In contrast to units in plasma, pH levels remained above seven in SSP+™ units, increasing after day 10. Percent positive expression of CD62P was similar in both groups on day 1 (median of 54% and 56% for plasma (n=13) and SSP+™ (n=12), respectively), with SSP+™ units showing a more moderate increase in activation after day 10. A progressive decrease in mitochondrial membrane potential was evident in both groups from day 1, whilst annexin V binding was relatively stable from days 1 to 3, with median values remaining below 6%. Subsequent to this, the percentage of platelets binding annexin V increased to approximately 30% by day 14. Platelets suspended in a medium of 70:30 SSP+™ to plasma ratio performed at least as well as platelets in 100% autologous plasma for up to 10 days of storage. Further, results are suggestive of an apoptosis-like process being involved in the platelet storage lesion. © 2011 The Author(s). Vox Sanguinis © 2011 International Society of Blood Transfusion.

  15. Physicochemical stability of carfilzomib (Kyprolis®) containing solutions in glass vials, ready-to-administer plastic syringes and infusion bags over a 28-day storage period.

    Science.gov (United States)

    Kim, Sun Hee; Krämer, Irene

    2017-01-01

    Centralized aseptic preparation of ready-to-administer carfilzomib containing parenteral solutions in plastic syringes and polyolefine (PO) infusion bags needs profound knowledge about the physicochemical stability in order to determine the beyond-use-date of the preparations. Therefore, the purpose of this study was to determine the physicochemical stability of carfilzomib solution marketed as Kyprolis® powder for solution for infusion. Reconstituted solutions and ready-to-administer preparations of Kyprolis® stored under refrigeration (2-8℃) or at room temperature (25℃) were analyzed at predetermined intervals over a maximum storage period of 28 days. Chemical stability of carfilzomib was planned to be determined with a stability-indicating reversed-phase high-performance liquid chromatography assay. Physicochemical stability was planned to be determined by visual inspection of clarity and color as well as pH measurement. The study results show that reconstituted carfilzomib containing parenteral solutions are stable in glass vials as well as diluted solutions in plastic syringes and PO infusion bags over a period of at least 28 days when stored light protected under refrigeration. When stored at room temperature, reconstituted and diluted carfilzomib solutions are physicochemically stable over 14 days and 10 days, respectively. The physicochemical stability of carfilzomib infusion solutions allows cost-saving pharmacy-based centralized preparation of ready-to-administer preparations.

  16. Practices and ethical concerns regarding preimplantation diagnosis. Who regulates preimplantation genetic diagnosis in Brazil?

    Directory of Open Access Journals (Sweden)

    B.B. Damian

    2015-01-01

    Full Text Available Preimplantation genetic diagnosis (PGD was originally developed to diagnose embryo-related genetic abnormalities for couples who present a high risk of a specific inherited disorder. Because this technology involves embryo selection, the medical, bioethical, and legal implications of the technique have been debated, particularly when it is used to select features that are not related to serious diseases. Although several initiatives have attempted to achieve regulatory harmonization, the diversity of healthcare services available and the presence of cultural differences have hampered attempts to achieve this goal. Thus, in different countries, the provision of PGD and regulatory frameworks reflect the perceptions of scientific groups, legislators, and society regarding this technology. In Brazil, several texts have been analyzed by the National Congress to regulate the use of assisted reproduction technologies. Legislative debates, however, are not conclusive, and limited information has been published on how PGD is specifically regulated. The country requires the development of new regulatory standards to ensure adequate access to this technology and to guarantee its safe practice. This study examined official documents published on PGD regulation in Brazil and demonstrated how little direct oversight of PGD currently exists. It provides relevant information to encourage reflection on a particular regulation model in a Brazilian context, and should serve as part of the basis to enable further reform of the clinical practice of PGD in the country.

  17. Effects of organic complexed or inorganic Co, Cu, Mn and Zn supplementation during a 45-day preconditioning period on productive and health responses of feeder cattle.

    Science.gov (United States)

    Lippolis, K D; Cooke, R F; Silva, L G T; Schubach, K M; Brandao, A P; Marques, R S; Larson, C K; Russell, J R; Arispe, S A; DelCurto, T; Bohnert, D W

    2017-11-01

    This experiment evaluated production and health parameters among cattle offered concentrates containing inorganic or organic complexed sources of supplemental Cu, Co, Mn and Zn during a 45-day preconditioning period. In total, 90 Angus×Hereford calves were weaned at 7 months (day -1), sorted by sex, weaning BW and age (261±2 kg; 224±2 days), and allocated to 18 drylot pens (one heifer and four steers per pen) on day 0; thus, all pens had equivalent initial BW and age. Pens were randomly assigned to receive a corn-based preconditioning concentrate containing: (1) Cu, Co, Mn and Zn sulfate sources (INR), (2) Cu, Mn, Co and Zn complexed organic source (AAC) or (3) no Cu, Co, Mn and Zn supplementation (CON). From day 0 to 45, cattle received concentrate treatments (2.7 kg/animal daily, as-fed basis) and had free-choice access to orchardgrass (Dactylis glomerata L.), long-stem hay and water. The INR and AAC treatments were formulated to provide the same daily amount of Co, Cu, Mn and Zn at a 50-, 16-, 8- and ninefold increase, respectively, compared with the CON treatment. On day 46, cattle were transported to a commercial feedlot, maintained as a single pen, and offered a free-choice receiving diet until day 103. Calf full BW was recorded on days -1 and 0, 45 and 46, and 102 and 103 for average daily gain (ADG) calculation. Liver biopsy was performed on days 0 (used as covariate), 22 and 45. Cattle were vaccinated against respiratory pathogens on days 15, 29 and 46. Blood samples were collected on days 15, 29, 45, 47, 49, 53 and 60. During preconditioning, mean liver concentrations of Co, Zn and Cu were greater (P⩽0.03) in AAC and INR compared with CON. No treatment effects were detected (P⩾0.17) for preconditioning feed intake, ADG or feed efficiency. No treatment effects were detected (P⩾0.48) for plasma concentrations of antibodies against Mannheimia haemolytica, bovine viral diarrhea types 1 and 2 viruses. Plasma haptoglobin concentrations were similar

  18. Proteomic analysis of proteins secreted by the extra-embryonic membranes of the preimplantation sheep conceptus

    International Nuclear Information System (INIS)

    Lee, R.S.F.

    2001-01-01

    The extraembryonic membranes (EEM) of the preimplantation sheep conceptus play a major role in the supply of nutrition to the embryo and subsequently participate in the formation of the placentomes. Such functions are likely to be mediated by proteins secreted by the EEM. These proteins may mediate maternal-embryonic interactions or provide the embryo with essential nutrients during the period of early organogenesis and rapid growth and differentiation of the EEM, leading up to implantation. Large format (40 x 40 cm) 2-D gels were used to analyze proteins secreted by the trophoblast, allantois and the yolk sac of day 17 or 18 conceptuses after incubation separately for 3h in the presence of [ 35 S]-methionine. Hundreds of proteins were detected, many of which have not been identified. Each of these EEM secreted different compositions of proteins, as did the two cell layers of the trophoblast. Several proteins that were secreted by the trophectoderm were absent in proteins secreted by the mesoderm layer of the trophoblast. Two of those were identified as interferon-τ and aldose reductase. The proteins secreted by the yolk sac differed markedly from those secreted by the allantois even though both of these membranes were derived from endodermal and mesodermal lineages and are both vascularized. Many of the yolk sac secretory proteins were glycoproteins similar to those found in serum that are normally synthesized by the adult liver; one of these was identified as transferrin. Northern analysis showed that the transferrin mRNA in the yolk sac was even more abundant than it was in adult liver. The similarity between the set of proteins secreted by the yolk sac and those in serum that are attributable to the liver suggests that the yolk sac performs in part, the function of the liver in the synthesis of these proteins. Many proteins secreted by the trophoblast and yolk Sac were detectable in the allantoic fluid even though these membranes were not in contact with the

  19. The status of preimplantation genetic diagnosis in Japan: a criticism.

    Science.gov (United States)

    Munné, Santiago; Cohen, Jacques

    2004-09-01

    Advances in preimplantation genetic diagnosis (PGD) are occurring worldwide. New clinics specializing in this approach to the control of disease genes or imbalanced chromosome numbers in human preimplantation embryos continue to increase. One exception is Japan, where the Japanese Society of Obstetrics and Gynecology disapproves of this practice because it discriminates against people with genetic abnormalities. Yet, some doctors there wish to introduce this method to help their couples to improved forms of IVF. This paper stresses the rights of patients to have a healthy baby, if necessary by the use of PGD. It argues against prohibition, since it complements the current nature of prenatal diagnosis and avoids the need for abortions in case of afflicted embryos. Consideration is also given to other attempts at restriction that have failed.

  20. Preimplantation genetic diagnosis for cystic fibrosis: a case report

    Science.gov (United States)

    Biazotti, Maria Cristina Santoro; Pinto, Walter; de Albuquerque, Maria Cecília Romano Maciel; Fujihara, Litsuko Shimabukuro; Suganuma, Cláudia Haru; Reigota, Renata Bednar; Bertuzzo, Carmen Sílvia

    2015-01-01

    Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby. PMID:25993078

  1. Preimplantation HLA typing for stem cell transplantation treatment of hemoglobinopathies

    Directory of Open Access Journals (Sweden)

    Anver Kuliev

    2014-09-01

    Full Text Available Preimplantation genetic diagnosis (PGD for HLA typing is steadily becoming an option for at risk couples with thalassemic children, requiring HLA matched bone marrow transplantation treatment. The paper presents the world’s largest PGD experience of 475 cases for over 2 dozens thalassemia mutations, resulting in birth of 132 unaffected children. A total of 146 cases were performed together with preimplantation HLA typing, resulting in detection and transfer of HLA matched unaffected embryos in 83 of them, yielding the birth of 16 HLA matched children, potential donors for their affected siblings. The presented experience of HLA matched stem cell transplantation for thalassemia, following PGD demonstrated a successful hematopoietic reconstitution both for younger and older patients. The data show that PGD is an efficient approach for HLA matched stem cell transplantation treatment for thalassemia.

  2. Functional analysis of lysosomes during mouse preimplantation embryo development.

    Science.gov (United States)

    Tsukamoto, Satoshi; Hara, Taichi; Yamamoto, Atsushi; Ohta, Yuki; Wada, Ayako; Ishida, Yuka; Kito, Seiji; Nishikawa, Tetsu; Minami, Naojiro; Sato, Ken; Kokubo, Toshiaki

    2013-01-01

    Lysosomes are acidic and highly dynamic organelles that are essential for macromolecule degradation and many other cellular functions. However, little is known about lysosomal function during early embryogenesis. Here, we found that the number of lysosomes increased after fertilization. Lysosomes were abundant during mouse preimplantation development until the morula stage, but their numbers decreased slightly in blastocysts. Consistently, the protein expression level of mature cathepsins B and D was high from the one-cell to morula stages but low in the blastocyst stage. One-cell embryos injected with siRNAs targeted to both lysosome-associated membrane protein 1 and 2 (LAMP1 and LAMP2) were developmentally arrested at the two-cell stage. Pharmacological inhibition of lysosomes also caused developmental retardation, resulting in accumulation of lipofuscin. Our findings highlight the functional changes in lysosomes in mouse preimplantation embryos.

  3. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome.

    Science.gov (United States)

    Brezina, Paul R; Benner, Andrew; Rechitsky, Svetlana; Kuliev, Anver; Pomerantseva, Ekaterina; Pauling, Dana; Kearns, William G

    2011-04-01

    To describe a method of amplifying DNA from blastocyst trophectoderm cells (two or three cells) and simultaneously performing 23-chromosome single nucleotide polymorphism microarrays and single-gene preimplantation genetic diagnosis. Case report. IVF clinic and preimplantation genetic diagnostic centers. A 36-year-old woman, gravida 2, para 1011, and her husband who both were carriers of GM(1) gangliosidosis. The couple wished to proceed with microarray analysis for aneuploidy detection coupled with DNA sequencing for GM(1) gangliosidosis. An IVF cycle was performed. Ten blastocyst-stage embryos underwent trophectoderm biopsy. Twenty-three-chromosome microarray analysis for aneuploidy and specific DNA sequencing for GM(1) gangliosidosis mutations were performed. Viable pregnancy. After testing, elective single embryo transfer was performed followed by an intrauterine pregnancy with documented fetal cardiac activity by ultrasound. Twenty-three-chromosome microarray analysis for aneuploidy detection and single-gene evaluation via specific DNA sequencing and linkage analysis are used for preimplantation diagnosis for single-gene disorders and aneuploidy. Because of the minimal amount of genetic material obtained from the day 3 to 5 embryos (up to 6 pg), these modalities have been used in isolation of each other. The use of preimplantation genetic diagnosis for aneuploidy coupled with testing for single-gene disorders via trophectoderm biopsy is a novel approach to maximize pregnancy outcomes. Although further investigation is warranted, preimplantation genetic diagnosis for aneuploidy and single-gene testing seem destined to be used increasingly to optimize ultimate pregnancy success. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  4. Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

    Science.gov (United States)

    Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

    2017-01-01

    Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

  5. Influence, in organic cultivation of eggplant, of the doses of nitrogen and soil green cover on the incidence of Corythaica cyathicollis in different periods of the day

    Directory of Open Access Journals (Sweden)

    Raul de Lucena Duarte Ribeiro

    2007-12-01

    Full Text Available Solanum melongena L., eggplant, is a culture that suffers many problems through pests, being a host of diverse species of bacteria, fungi, mites and insects. The “chinch bug”, Corythaica cyathicollis (Costa, 1864 (Hemiptera, Tingidae is known to cause serious damage to the culture. This research was conducted in August of 2005, at the Federal Rural University of Rio de Janeiro (UFRRJ. The aim was to evaluate the effects of different doses of nitrogen (50, 100, 200 and 300kg/ha, different soil coverings (grass and Arachis pintoi, and periods of the day (morning, afternoon, evening on the population of the insect C. cyathycollis associated with the culture of S. melongena under organic system production. The delineation was in randomized blocks, with 12 treatments and 4 replications. Interaction was not verified among the studied factors (doses of nitrogen, soil covering and period of the day, but it was observed that the use of soil covering and low doses of nitrogen caused a reduction in the number of insect. The majority of insects were found during the period of the morning (39.2%.

  6. The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia

    Science.gov (United States)

    Cho, Jae-Hyun; Lee, Kyung-Hee; Jeon, Il-Kyung; Kim, Jae-Min; Kang, Byung-Moon

    2014-01-01

    Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1. Preimplantation genetic diagnosis (PGD) for CTLN1 in day 3 embryos using polymerase chain reaction was performed for live birth of healthy baby who is no affected with CTLN1. One unaffected blastocyst was transferred. This resulted in a clinical pregnancy and the live birth of healthy male twin. They were confirmed to be unaffected with CTNL1 by post natal diagnosis. This is the first case report of the use of PGD for CTNL1. PMID:24883299

  7. Protein degradation in preimplantation mouse embryos and the lethality of tritiated amino acids

    International Nuclear Information System (INIS)

    Wielbold, J.L.

    1982-01-01

    The role of protein degradation in preimplantation development in the mouse was studied. Proteins of morulae and blastocysts (M and B) cultured in vitro after labeling for 1 hour (h) in 3 H-leucine exhibit a mean half-life (t 1 / 2 ) of 8.1 h. The t 1 / 2 tends to increase (9.5 h) when 10% fetal calf serum is added to the chase medium. This decrease in protein degradation in the presence of serum is associated with an increase in the percentage of B that are hatching (P 3 H-leucine in their proteins than did Day 4 embryos remaining in culture (P<0.02), while Day 4 embryos in a Day 3 uterus retained the same amount of radioactivity as did Day 4 embryos in culture. This differential effect of uterine environment was also seen when Day 4 embryos were transferred to recipients. More fetuses developed to term when the recipient was in Day 3 of PSP (50.8%) than when the recipient was in Day 4 PSP (25.9%, P<0.001), regardless of the age of the recipient. Age of the recipient does affect the percentage of transferred embryos developing to term. Thus, protein degradation may vary with the stage of embryo development and the conditions to which the embryos are exposed. However, even low levels of incorporated tritiated leucine can have lethal effects on the embryos and compromise the validity of the protein half-lives determined

  8. High energy X-ray observations of CYG X-3 from from OSO-8: Further evidence of a 34.1 day period

    Science.gov (United States)

    Dolan, J. F.; Crannell, C. J.; Dennis, B. R.; Frost, K. J.; Orwig, L. E.

    1981-01-01

    The X-ray source Cyg X-3 (=4U2030+40) was observed with the high energy X-ray spectrometer on OSO-8 for two weeks in 1975 and in 1976 and for one week in 1977. No change in spectral shape and intensity above 23 keV was observed from year to year. No correlation is observed between the source's intensity and the phase of the 34.1 day period discovered by Molteni, et al. (1980). The pulsed fraction of the 4.8 hour light curve between 23 and 73 keV varies from week to week, however, and the magnitude of the pulsed fraction appears to be correlated with the 34.1 day phase. No immediate explanation of this behavior is apparent in terms of previously proposed models of the source.

  9. Ultrastructural analyses of blood capillaries of ovary of 20-days albino rats foetus under their irradiation in different periods of embryogenesis

    International Nuclear Information System (INIS)

    Ablekovskaya, O.N.; Amvros'ev, A.P.

    1999-01-01

    The character and direction of structural transformations of blood capillaries of micro circulatory channel of 20-days white rat foetus in normal conditions and after single external 0,5 Gy dose irradiation by 10 and 14 days of embryogenesis were examined. Electron-microscopical, stereo logical and statistical analyses were used. The peculiarities of reactions of hemo capillaries and their cell structure to gamma-rays action in embryogenesis were revealed. It was shown the increase of diameters of capillaries, extension of section area of cytoplasm of endotheliocytes, diminution the size of nuclei of these cells. Polyploid endotheliocytes were found in the experimental conditions. Prenatal acute irradiation in low doses leaded to reduction of the number of microvessels and mitochondria in cytoplasm of cells of blood capillaries in ovary of rat foetus. These results revealed that low dose ionizing radiation changed the morphological expression of important synthetic, transport and energy processes in capillary cells of ovary in fetal period of ontogenesis

  10. Expression of microRNAs in bovine and human pre-implantation embryo culture media

    Science.gov (United States)

    Kropp, Jenna; Salih, Sana M.; Khatib, Hasan

    2014-01-01

    MicroRNAs (miRNA) are short non-coding RNAs which act to regulate expression of genes driving numerous cellular processes. These RNAs are secreted within exosomes from cells into the extracellular environment where they may act as signaling molecules. In addition, they are relatively stable and are specifically expressed in association to certain cancers making them strong candidates as biological markers. Moreover, miRNAs have been detected in body fluids including urine, milk, saliva, semen, and blood plasma. However, it is unknown whether they are secreted by embryonic cells into the culture media. Given that miRNAs are expressed throughout embryonic cellular divisions and embryonic genome activation, we hypothesized that they are secreted from the embryo into the extracellular environment and may play a role in the developmental competence of bovine embryos. To test this hypothesis, bovine embryos were cultured individually from day 5 to day 8 of development in an in vitro fertilization system and gene expression of 5 miRNAs was analyzed in both embryos and culture media. Differential miRNA gene expression was observed between embryos that developed to the blastocyst stage and those that failed to develop from the morula to blastocyst stage, deemed degenerate embryos. MiR-25, miR-302c, miR-196a2, and miR-181a expression was found to be higher in degenerate embryos compared to blastocyst embryos. Interestingly, these miRNAs were also found to be expressed in the culture media of both bovine and human pre-implantation embryos. Overall, our results show for the first time that miRNAs are secreted from pre-implantation embryos into culture media and that miRNA expression may correlate with developmental competence of the embryo. Expression of miRNAs in in vitro culture media could allow for the development of biological markers for selection of better quality embryos and for subsequent successful pregnancy. PMID:24795753

  11. [Retrospective Analysis of the Afatinib Clinical Pathway during the 28-Day Introductory Period-The Japanese Style of Collaborative Drug Therapy Management(J-CDTM)].

    Science.gov (United States)

    Iwata, Kaori; Ryota, Noriko; Hikita, Ami; Sando, Masumi; Suzuki, Hidekazu; Tamiya, Motohiro; Azuma, Yuichiro; Tani, Eriko; Hamaguchi, Masanari; Tanaka, Ayako; Shiroyama, Takayuki; Morishita, Naoko; Okamoto, Norio; Futagami, Sumiko; Hirashima, Tomonori

    2015-08-01

    Afatinib is a newly approved second-generation epidermal growth factor receptor-tyrosine kinase inhibito r(EGFR-TKI). Afatinib has been shown to prolongthe overall survival of patients with non-small cell lungcancer (NSCLC) with EGFR mutations compared with the standard chemotherapy. However, Grade 3 or 4 toxicities, includingdiarrhea, rash, paronychia, and stomatitis, have been observed more frequently in patients treated with afatinib than in those treated with first-generation EGFR-TKIs. Accordingly, our institution developed an afatinib clinical pathway (the afatinib pathway), which was designed by certified nurses, medical physicians, and certified pharmacists, with the goal of reducing the severity of diarrhea and rash that occur most frequently duringthe 28-day introductory period of afatinib treatment. Between May and October 2014, afatinib was administered accordingto the afatinib pathway to 14 patients with NSCLC and EGFR mutations. Of these patients, only one (7.1%) experienced Grade 3 diarrhea. No other patient experienced Grade 3 or 4 toxicity. The afatinib pathway was effective in reducingthe severities of the diarrhea and rash duringthe 28-day introductory period of the afatinib treatment. Our implementation of the afatinib pathway could be considered the Japanese style of collaborative drugtherapy management (J-CDTM).

  12. Practical Physical and Behavioral Measures to Assess the Socialization Spectrum of Cats in a Shelter-Like Setting during a Three Day Period

    Directory of Open Access Journals (Sweden)

    Margaret Slater

    2013-12-01

    Full Text Available Animal welfare organizations routinely accept large numbers of cats with unknown histories, and whose backgrounds vary from well-socialized pets to cats that have had little or no contact with humans. Agencies are challenged with making the determination of socialization level in a highly stressful environment where cats are often too frightened to show typical behaviors. A variety of structured behavioral assessments were conducted in a shelter-like environment, from intake through a three day holding period, on cats from the full range of socialization as reported by their caregivers. Our results show that certain behaviors such as rubbing, playing, chirping, having the tail up or being at the front of the cage were found to be unique to More Socialized cats. While not all more socialized cats showed these behaviors, cats that did were socialized. Assessing the cats throughout the three day period was beneficial in eliciting key behaviors from shyer and more frightened cats. These results will be used in future work to develop an assessment tool to identify the socialization status of cats as a standardized guide for transparent and reliable disposition decisions and higher live release rates for cats in animal shelters.

  13. Detection of a repeated transit signature in the light curve of the enigma star KIC 8462852: A possible 928-day period

    Science.gov (United States)

    Kiefer, F.; Lecavelier des Étangs, A.; Vidal-Madjar, A.; Hébrard, G.; Bourrier, V.; Wilson, P. A.

    2017-12-01

    As revealed by its peculiar Kepler light curve, the enigmatic star KIC 8462852 undergoes short and deep flux dimmings at a priori unrelated epochs. This star presents nonetheless all other characteristics of a quiet 1 Gyr old F3V star. These dimmings resemble the absorption features expected for the transit of dust cometary tails. The exocomet scenario is therefore most commonly advocated. We reanalysed the Kepler data and extracted a new high-quality light curve to allow for the search of shallow signatures of single or a few exocomets. We discovered that among the 22 flux dimming events that we identified, two events present a striking similarity. These events occurred 928.25 days apart and lasted for 4.4 days with a drop in the star brightness by 1000 ppm. We show that the light curve of these events is well explained by the occultation of the star by a giant ring system or by the transit of a string of half a dozen exocomets with a typical dust production rate of 105-106 kg s-1. Assuming that these two similar events are related to the transit of the same object, we derive a period of 928.25 days. The following transit was expected in March 2017 but bad weather prohibited us from detecting it from ground-based spectroscopy. We predict that the next event will occur between 3-8 October 2019.

  14. Factors affecting the gene expression of in vitro cultured human preimplantation embryos

    NARCIS (Netherlands)

    Mantikou, E.; Jonker, M. J.; Wong, K. M.; van Montfoort, A. P. A.; de Jong, M.; Breit, T. M.; Repping, S.; Mastenbroek, S.

    2016-01-01

    What is the relative effect of common environmental and biological factors on transcriptome changes during human preimplantation development? Developmental stage and maternal age had a larger effect on the global gene expression profile of human preimplantation embryos than the culture medium or

  15. Data assimilation of a ten-day period during June 1993 over the Southern Great Plains Site using a nested mesoscale model

    Energy Technology Data Exchange (ETDEWEB)

    Dudhia, J.; Guo, Y.R. [National Center for Atmospheric Research, Boulder, CO (United States)

    1996-04-01

    A goal of the Atmospheric Radiation Measurement (ARM) Program has been to obtain a complete representation of physical processes on the scale of a general circulation model (GCM) grid box in order to better parameterize radiative processes in these models. Since an observational network of practical size cannot be used alone to characterize the Cloud and Radiation Testbed (CART) site`s 3D structure and time development, data assimilation using the enhanced observations together with a mesoscale model is used to give a full 4D analysis at high resolution. The National Center for Atmospheric Research (NCAR)/Penn State Mesoscale Model (MM5) has been applied over a ten-day continuous period in a triple-nested mode with grid sizes of 60, 20 and 6.67 in. The outer domain covers the United States` 48 contiguous states; the innermost is a 480-km square centered on Lamont, Oklahoma. A simulation has been run with data assimilation using the Mesoscale Analysis and Prediction System (MAPS) 60-km analyses from the Forecast Systems Laboratory (FSL) of the National Ocean and Atmospheric Administration (NOAA). The nested domains take boundary conditions from and feed back continually to their parent meshes (i.e., they are two-way interactive). As reported last year, this provided a simulation of the basic features of mesoscale events over the CART site during the period 16-26 June 1993 when an Intensive Observation Period (IOP) was under way.

  16. Technique of the `in vitro` fertilization and the culture of mouse embryos at preimplantation; Tecnica de fertilizacao `in vitro` e cultura de embrioes de camundongo durante a pre-implantacao

    Energy Technology Data Exchange (ETDEWEB)

    Kikuchi, Olivia Kimiko [Instituto de Pesquisas Energeticas e Nucleares (IPEN), Sao Paulo, SP (Brazil); Yamada, Takeshi [National Inst. of Radiological Sciences, Chiba (Japan)

    1993-03-01

    The mammal embryo is an intensive cellular proliferating system, very radiosensitive and therefore adequate to the study of the biological effects of ionizing radiation. The technique of the in vitro fertilization and the culture of mouse embryos at preimplantation period, modified by Yamada et al (1982) to improve the efficiency of more than 95% of blastocyst formation is described. (author) 2 refs., 7 figs.

  17. Study on preimplantation genetic diagnosis and follow-up for Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Juan YANG

    2015-07-01

    Full Text Available Objective  To carry out preimplantation genetic diagnosis (PGD for Duchenne muscular dystrophy (DMD carrier, so as to prevent the birth of affected infants with DMD.  Methods  One DMD gene carrier with a deletion of exon 10-30 received fertilization with intracytoplasmic sperm injection (ICSI. DMD gene and haplotype were tested after amplification of genome DNA in multiple displacement amplification (MDA, then healthy embryos were transferred to uterus according to the genetic results. Genetic testing was made in second trimester and after delivery, and also periodic follow-up was made for over 3 years.  Results  The second cycle of PGD was successful, and a total of 14 single blastomeres obtained from 7 embryos were used for genetic analysis. The success rate of MDA was 13/14, and the allele dropout rate was 18.75% (18/96. Three unaffected embryos were transferred, resulting in twin pregnancy. One healthy boy and one healthy girl were born in cesarean section at the pregnant week of 35. Genetic results on DNA from both amniotic fluid at 16 weeks of gestation and peripheral blood after birth were normal. During the 3-year follow-up, both 2 infants were normal in growth and development, motor function and dynamic monitor of serum creatine kinase (CK.  Conclusions  Preimplantation genetic diagnosis can help DMD gene carrier give birth to healthy infants, and these infants have normal development. DOI: 10.3969/j.issn.1672-6731.2015.06.008

  18. Practical Physical and Behavioral Measures to Assess the Socialization Spectrum of Cats in a Shelter-Like Setting during a Three Day Period

    Science.gov (United States)

    Slater, Margaret; Garrison, Laurie; Miller, Katherine; Weiss, Emily; Makolinski, Kathleen; Drain, Natasha; Mirontshuk, Alex

    2013-01-01

    Simple Summary Animal welfare organizations accept large numbers of cats with no known history. Because shelters are often highly stressful environments for cats, it is likely to be difficult to differentiate a frightened cat that is socialized to humans from a feral cat that is not. However, this distinction can help channel cats into appropriate dispositions. We conducted structured assessments to measure various behaviors and their potential to distinguish socialization levels. Our results show that a specific set of behaviors are only exhibited by more socialized cats. Many cats needed time to adjust to the shelter-type setting to show these socialized behaviors. Abstract Animal welfare organizations routinely accept large numbers of cats with unknown histories, and whose backgrounds vary from well-socialized pets to cats that have had little or no contact with humans. Agencies are challenged with making the determination of socialization level in a highly stressful environment where cats are often too frightened to show typical behaviors. A variety of structured behavioral assessments were conducted in a shelter-like environment, from intake through a three day holding period, on cats from the full range of socialization as reported by their caregivers. Our results show that certain behaviors such as rubbing, playing, chirping, having the tail up or being at the front of the cage were found to be unique to More Socialized cats. While not all more socialized cats showed these behaviors, cats that did were socialized. Assessing the cats throughout the three day period was beneficial in eliciting key behaviors from shyer and more frightened cats. These results will be used in future work to develop an assessment tool to identify the socialization status of cats as a standardized guide for transparent and reliable disposition decisions and higher live release rates for cats in animal shelters. PMID:26479757

  19. The impact of preimplantation genetic diagnosis on human embryos

    Directory of Open Access Journals (Sweden)

    García-Ferreyra J.

    2016-12-01

    Full Text Available Chromosome abnormalities are extremely common in human oocytes and embryos and are associated with a variety of negative outcomes for both natural cycles and those using assisted reproduction techniques. Aneuploidies embryos may fail to implant in the uterus, miscarry, or lead to children with serious medical problems (e.g., Down syndrome. Preimplantation genetic diagnosis (PGD is a technique that allows the detection of aneuploidy in embryos and seeks to improve the clinical outcomes od assisted reproduction treatments, by ensuring that the embryos chosen for the transfer are chromosomally normal.

  20. Application of preimplantation genetic diagnosis in equine blastocysts

    Directory of Open Access Journals (Sweden)

    Grady ST

    2016-08-01

    Full Text Available Pre-implantation genetic diagnosis (PGD is a procedure used to screen in vitroproduced embryos or embryos recovered after uterine flush to determine genetic traits by DNA testing prior to transfer into the uterus. Biopsy methods to obtain a sample of cells for genetic analysis before implantation have been successful in small embryos (morulae and blastocysts 300 µm diameter. The successful biopsy of expanded equine blastocysts via micromanipulation, with subsequent normal pregnancy rates, was first reported in 2010. Direct PCR may be performed when evaluating only one gene, such as for embryo sexing, while whole genome amplification is effective for subsequent multiplex PCR of multiple genes.

  1. Turbulence kinetic energy budget during the afternoon transition - Part 1: Observed surface TKE budget and boundary layer description for 10 intensive observation period days

    Science.gov (United States)

    Nilsson, Erik; Lohou, Fabienne; Lothon, Marie; Pardyjak, Eric; Mahrt, Larry; Darbieu, Clara

    2016-07-01

    The decay of turbulence kinetic energy (TKE) and its budget in the afternoon period from midday until zero-buoyancy flux at the surface is studied in a two-part paper by means of measurements from the Boundary Layer Late Afternoon and Sunset Turbulence (BLLAST) field campaign for 10 intensive observation period days. Here, in Part 1, near-surface measurements from a small tower are used to estimate a TKE budget. The overall boundary layer characteristics and mesoscale situation at the site are also described based upon taller tower measurements, radiosoundings and remote sensing instrumentation. Analysis of the TKE budget during the afternoon transition reveals a variety of different surface layer dynamics in terms of TKE and TKE decay. This is largely attributed to variations in the 8 m wind speed, which is responsible for different amounts of near-surface shear production on different afternoons and variations within some of the afternoon periods. The partitioning of near-surface production into local dissipation and transport in neutral and unstably stratified conditions was investigated. Although variations exist both between and within afternoons, as a rule of thumb, our results suggest that about 50 % of the near-surface production of TKE is compensated for by local dissipation near the surface, leaving about 50 % available for transport. This result indicates that it is important to also consider TKE transport as a factor influencing the near-surface TKE decay rate, which in many earlier studies has mainly been linked with the production terms of TKE by buoyancy and wind shear. We also conclude that the TKE tendency is smaller than the other budget terms, indicating a quasi-stationary evolution of TKE in the afternoon transition. Even though the TKE tendency was observed to be small, a strong correlation to mean buoyancy production of -0.69 was found for the afternoon period. For comparison with previous results, the TKE budget terms are normalized with

  2. Turbulence kinetic energy budget during the afternoon transition – Part 1: Observed surface TKE budget and boundary layer description for 10 intensive observation period days

    Directory of Open Access Journals (Sweden)

    E. Nilsson

    2016-07-01

    Full Text Available The decay of turbulence kinetic energy (TKE and its budget in the afternoon period from midday until zero-buoyancy flux at the surface is studied in a two-part paper by means of measurements from the Boundary Layer Late Afternoon and Sunset Turbulence (BLLAST field campaign for 10 intensive observation period days. Here, in Part 1, near-surface measurements from a small tower are used to estimate a TKE budget. The overall boundary layer characteristics and mesoscale situation at the site are also described based upon taller tower measurements, radiosoundings and remote sensing instrumentation. Analysis of the TKE budget during the afternoon transition reveals a variety of different surface layer dynamics in terms of TKE and TKE decay. This is largely attributed to variations in the 8 m wind speed, which is responsible for different amounts of near-surface shear production on different afternoons and variations within some of the afternoon periods. The partitioning of near-surface production into local dissipation and transport in neutral and unstably stratified conditions was investigated. Although variations exist both between and within afternoons, as a rule of thumb, our results suggest that about 50 % of the near-surface production of TKE is compensated for by local dissipation near the surface, leaving about 50 % available for transport. This result indicates that it is important to also consider TKE transport as a factor influencing the near-surface TKE decay rate, which in many earlier studies has mainly been linked with the production terms of TKE by buoyancy and wind shear. We also conclude that the TKE tendency is smaller than the other budget terms, indicating a quasi-stationary evolution of TKE in the afternoon transition. Even though the TKE tendency was observed to be small, a strong correlation to mean buoyancy production of −0.69 was found for the afternoon period. For comparison with previous results, the TKE

  3. Preimplantation genetic diagnosis and screening: Current status and future challenges

    Directory of Open Access Journals (Sweden)

    Hsin-Fu Chen

    2018-02-01

    Full Text Available Preimplantation genetic diagnosis (PGD is a clinically feasible technology to prevent the transmission of monogenic inherited disorders in families afflicted the diseases to the future offsprings. The major technical hurdle is it does not have a general formula for all mutations, thus different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scarce, whereas timely result is sometimes requested if fresh embryo transfer is desired. On the other hand, preimplantation genetic screening (PGS screens embryo with aneuploidy and was also known as PGD-A (A denotes aneuploidy in order to enhance the implantation rates as well as livebirth rates. In contrasts to PGD, PGS is still under ferocious debate, especially recent reports found that euploid babies were born after transferring the aneuploid embryos diagnosed by PGS back to the womb and only very few randomized trials of PGS are available in the literature. We have been doing PGD and/or PGS for more than 10 years as one of the core PGD/PGS laboratories in Taiwan. Here we provide a concise review of PGD/PGS regarding its current status, both domestically and globally, as well as its future challenges.

  4. Preimplantation genetic diagnosis guided by single-cell genomics

    Science.gov (United States)

    2013-01-01

    Preimplantation genetic diagnosis (PGD) aims to help couples with heritable genetic disorders to avoid the birth of diseased offspring or the recurrence of loss of conception. Following in vitro fertilization, one or a few cells are biopsied from each human preimplantation embryo for genetic testing, allowing diagnosis and selection of healthy embryos for uterine transfer. Although classical methods, including single-cell PCR and fluorescent in situ hybridization, enable PGD for many genetic disorders, they have limitations. They often require family-specific designs and can be labor intensive, resulting in long waiting lists. Furthermore, certain types of genetic anomalies are not easy to diagnose using these classical approaches, and healthy offspring carrying the parental mutant allele(s) can result. Recently, state-of-the-art methods for single-cell genomics have flourished, which may overcome the limitations associated with classical PGD, and these underpin the development of generic assays for PGD that enable selection of embryos not only for the familial genetic disorder in question, but also for various other genetic aberrations and traits at once. Here, we discuss the latest single-cell genomics methodologies based on DNA microarrays, single-nucleotide polymorphism arrays or next-generation sequence analysis. We focus on their strengths, their validation status, their weaknesses and the challenges for implementing them in PGD. PMID:23998893

  5. Detrimental effects of microgravity on mouse preimplantation development in vitro.

    Directory of Open Access Journals (Sweden)

    Sayaka Wakayama

    Full Text Available Sustaining life beyond Earth either on space stations or on other planets will require a clear understanding of how the space environment affects key phases of mammalian reproduction. However, because of the difficulty of doing such experiments in mammals, most studies of reproduction in space have been carried out with other taxa, such as sea urchins, fish, amphibians or birds. Here, we studied the possibility of mammalian fertilization and preimplantation development under microgravity (microG conditions using a three-dimensional (3D clinostat, which faithfully simulates 10(-3 G using 3D rotation. Fertilization occurred normally in vitro under microG. However, although we obtained 75 healthy offspring from microG-fertilized and -cultured embryos after transfer to recipient females, the birth rate was lower than among the 1G controls. Immunostaining demonstrated that in vitro culture under microG caused slower development and fewer trophectoderm cells than in 1G controls but did not affect polarization of the blastocyst. These results suggest for the first time that fertilization can occur normally under microG environment in a mammal, but normal preimplantation embryo development might require 1G.

  6. [Traditional and modern approaches to culture of preimplantation mammalian embryos in vitro].

    Science.gov (United States)

    Brusentsev, E Iu; Igonina, T N; Amstislavskiĭ, S Ia

    2014-01-01

    This review covers the basic principles and methods of in vitro culture of preimplantation mammalian embryos. The features of in vitro development of embryos of various species of animals with allowance for the composition of nutrient media are described, with special attention paid to those species that have traditionally been consideredas laboratory (i.e., mice, rats, and hamsters). The effects of suboptimal culturing conditions of preimplantation embryos on the formation of the phenotype of individuals developed from these embryos are discussed. New approaches to optimize the conditions of the development of preimplantation mammalian embryos in vitro are analyzed.

  7. The effect of herbicide BASTA 15 on the development of mouse preimplantation embryos in vivo and in vitro.

    Science.gov (United States)

    Fabian, D; Bystriansky, J; Burkuš, J; Rehák, P; Legáth, J; Koppel, J

    2011-02-01

    The aim of this study was to evaluate the possible effect of maternal poisoning by BASTA-15 on developmental capacities and quality of preimplantation embryos in a mouse model. During in vivo tests, fertilized mice were fed with various doses of BASTA-15 for several days. During in vitro tests, isolated embryos were cultured in a medium with the addition of herbicide or its main compound glufosinate ammonium. Stereomicroscopic evaluation of embryonic pools obtained from treated dams showed that BASTA-15 at dose 58 μl/kg bw negatively affected their ability to reach the blastocyst stage. Moreover, as shown by morphological evaluation, based on cell counting and cell death assay, even the application of herbicide at the lowest dose (approx. 1/100 LD50) had a negative effect on obtained embryo quality. In vitro tests proved the direct ability of BASTA-15 to negatively affect embryo growth and quality. On the other hand, the addition of glufosinate ammonium at equivalent concentrations (from 0.015 to 15 μg/ml) had almost no damaging effect on embryos. It was harmful only at very high doses. Results show that maternal intoxication with BASTA-15 might affect the development of preimplantation embryos and suggest that the responsibility for this effect lies probably not solely with glufosinate ammonium, but in combination with the herbicide's secondary compounds. Copyright © 2010 Elsevier Ltd. All rights reserved.

  8. The period of the day affects the twenty-four hour blood pressure response to an acute combined exercise session in Brazilian jiu jitsu athletes

    Directory of Open Access Journals (Sweden)

    Rafaello Pinheiro Mazzoccante

    2015-09-01

    Full Text Available AbstractThe purpose of this study was to compare the effect of a combined exercise session performed at different periods of the day on the 24h blood pressure (BP response. Anaerobic threshold (AT and 12 repetition maximum (12RM tests were evaluated in nine Brazilian jiu-jitsu athletes (male (22±3.7 y; 176±5.0 cm; 73.4±9.7 kg; 6.8±2.1 % body fat. Four experimental sessions were performed: resistance exercise followed by aerobic exercise [Morning (MornS and Afternoon (AfternS] and Control (C [Morning and Afternoon]. The morning sessions were conducted at 09:00 a.m. and the afternoon sessions were conducted at 3:00 p.m. The resistance exercise consisted of three sets at 90% of a 12RM for six resistance exercises. The aerobic exercise consisted of 15min at 90% of the AT. Blood pressure (BP was measured before, during and 1h (Microlife(r BP3A1C after the performance of exercises in laboratory, and then during daily activities for the succeeding 23h by ambulatory BP monitoring (Dyna-MAPA(r. Analysis of the area under the curve (AUC indicated significant reductions in blood pressure parameters at various time points during the 24h monitoring period. For systolic BP (SBP, significantly lower values were shown following the morning session versus the control (MornS: 1756.2±100.8 vs. C: 1818.2±84.3 mmHg*15h; p < .05 and total-24h (MornS: 2695.8±143.3 vs. C: 2784.1±143.2 mmHg*24h; p < .05. The total-24h mean BP (MAP was also significantly lower following the morning session versus the control (MornS: 2015.7±121.2 vs. C: 2087.3±153.8 mmHg*24h; p < .05. There were significant differences in the sleeping AUC of SBP (AfternS: 883.6±27.0 vs. C: 965.2±67.9 mmHg*9h; p< .05, diastolic BP (DBP (AfternS: 481.4±30.9 vs. MornS: 552.9±34.2 and C: 562.1±52.3 mmHg*9h; p < .01 and MBP (AfternS: 651.9±22.4 vs. MornS: 708.7±43.1 and C: 726.9±64.7 mmHg*9h; p < .01. The combined exercise performed at different periods of the day contributed distinctly to

  9. Successful application of preimplantation genetic diagnosis for beta-thalassaemia and sickle cell anaemia in Italy.

    Science.gov (United States)

    Chamayou, S; Alecci, C; Ragolia, C; Giambona, A; Siciliano, S; Maggio, A; Fichera, M; Guglielmino, A

    2002-05-01

    In Italy, the autosomal recessive diseases beta-thalassaemia and sickle cell anaemia are so widespread that in some regions they can be defined as 'social diseases'. In this study, nine clinical applications of preimplantation genetic diagnosis (PGD) were performed for beta-thalassaemia and sickle cell anaemia on seven Sicilian couples and carriers of beta-globin gene mutations. The studied mutations were: Cd39, HbS, IVS1 nt1, IVS1 nt6 and IVS1 nt110. ICSI was performed with partner's sperm on 131 out of 147 retrieved oocytes, and this resulted in 72 zygotes; 32 embryos were successfully biopsied on day 3. The biopsied blastomeres were lysed and the beta-globin alleles amplified by nested PCR. The mutation diagnosis was performed by restriction enzyme digestion and reverse dot-blot. The amplification efficacy was 97.2%. The genotype study of non-transferred and surplus embryos showed that the allele drop-out rate was 8.6%. Seventeen embryos were transferred in utero on day 4. All couples received an embryo transfer; of the four pregnancies obtained, three resulted in live births and one miscarried at 11 weeks. Prenatal diagnosis at the 11th week and miscarriage material analysis confirmed the PGD results. These studies represent the first successful application of PGD for beta-thalassaemia and sickle cell anaemia in Italy.

  10. PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA

    Directory of Open Access Journals (Sweden)

    Karin Writzl

    2018-02-01

    Full Text Available Background. Preimplantation genetic diagnosis offers early investigation of embryos in couples with a high risk for offspring affected by a genetic disease. We report indications and results associated with the PGD program conducted at Gynecology Clinic Ljubljana from June 2004 to December 2008. Methods. The retrospective analysis includes sixty cycles performed in 34 couples enrolled in the PGD programe. Embryos were biopsied on the third day and the genetic analysis was performed using the FISH and PCR methods. Embryo transfers were carried out on the fifth day. Results. The main indications were chromosomal abnormalities (67 %, followed by recurrent miscarriages (16 %, autosomal dominant and recessive diseases (9 %, and X-linked diseases (6 %. Sixty cycles were performed and 48 embryo transfer procedures. There were 15 clinical pregnancies resulting in clinical pregnancy rate 25 % per cycle and 37.5 % per embryo transfer. A total of eight unaffected children were born, and two pregnancies are still ongoing. Conclusions. PGD is technically a very challenging procedure. Superior knowledge and communication between geneticists and reproductive medicine scientists is mandatory for successful PGD procedures. PGD has gained a place among the choices offered at Gynecology Clinic Ljubljana to couples at risk of transmission of genetic disease.

  11. The fate of paternal mitochondria in marmoset pre-implantation embryos.

    Science.gov (United States)

    Luetjens, C M; Wesselmann, R

    2008-06-01

    Sperm-derived mitochondria are integrated into the oocyte at fertilization but seem to vanish during the early cleavage phase. The developmental potential of pre-implantation embryos seems to be closely related to their ability to induce degeneration of these mitochondria, but the mechanisms underlying their loss of function are not yet understood. This study focuses on the fate of paternal mitochondria in pre-implantation embryos. Stimulation, collection and in vitro culture of oocytes from Callithrix jacchus, allows the study of the destiny of paternal mitochondria by utilizing immunostaining of pre-implantation embryos, fluorescence and laserscanning microscopy. Live pre-implantation embryos were stained with a fluorescence indicator reflecting mitochondrial membrane potential. Evidence indicating the loss of mitochondrial function was not found nor that apoptosis pathways were involved in the disappearance of paternally derived mitochondria. These findings may have implications for mitochondrially inherited diseases and could lead to new strategies for improving assisted reproduction.

  12. Restricted mobility of Dnmt1 in preimplantation embryos: implications for epigenetic reprogramming

    Science.gov (United States)

    Grohmann, Maik; Spada, Fabio; Schermelleh, Lothar; Alenina, Natalia; Bader, Michael; Cardoso, M Cristina; Leonhardt, Heinrich

    2005-01-01

    Background Mouse preimplantation development is characterized by both active and passive genomic demethylation. A short isoform of the prevalent maintenance DNA methyltransferase (Dnmt1S) is found in the cytoplasm of preimplantation embryos and transiently enters the nucleus only at the 8-cell stage. Results Using GFP fusions we show that both the long and short isoforms of Dnmt1 localize to the nucleus of somatic cells and the cytoplasm of preimplantation embryos and that these subcellular localization properties are independent of phosphorylation. Importantly, photobleaching techniques and salt extraction revealed that Dnmt1S has a very restricted mobility in the cytoplasm, while it is highly mobile in the nucleus of preimplantation embryos. Conclusion The restricted mobility of Dnmt1S limits its access to DNA and likely contributes to passive demethylation and epigenetic reprogramming during preimplantationdevelopment. PMID:16120212

  13. Effect of increased urea levels on mouse preimplantation embryos develop in vivo and in vitro

    Czech Academy of Sciences Publication Activity Database

    Bystriansky, J.; Burkuš, J.; Juhás, Štefan; Fabian, D.; Koppel, J.

    2012-01-01

    Roč. 56, č. 2 (2012), s. 211-216 ISSN 0042-4870 Institutional support: RVO:67985904 Keywords : mouse * preimplantation embryo * urea Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine Impact factor: 0.377, year: 2012

  14. An anxiety, personality and altitude symptomatology study during a 31-day period of hypoxia in a hypobaric chamber (experiment 'Everest-Comex 1997').

    Science.gov (United States)

    Nicolas, M; Thullier-Lestienne, F; Bouquet, C; Gardette, B; Gortan, C; Joulia, F; Bonnon, M; Richalet, J P; Therme, P; Abraini, J H

    1999-12-01

    Extreme environmental situations are useful tools for the investigation of the general processes of adaptation. Among such situations, high altitude of more than 3000 m produces a set of pathological disorders that includes both cerebral (cAS) and respiratory (RAS) altitude symptoms. High altitude exposure further induces anxiety responses and behavioural disturbances. The authors report an investigation on anxiety responses, personality traits, and altitude symptoms (AS) in climbers participating in a 31-day period of confinement and gradual decompression in a hypobaric chamber equivalent to a climb from sea-level to Mount Everest (8848 m altitude). Personality traits, state-trait anxiety, and AS were assessed, using the Cattell 16 Personality Factor questionnaire (16PF), the Spielberger's State-Trait Anxiety Inventory (STAI), and the Lake Louise concensus questionnaire. Results show significant group effect for state-anxiety and AS; state-anxiety and AS increased as altitude increased. They also show that state-type anxiety shows a similar time-course to cAS, but not RAS. Alternatively, our results demonstrate a significant negative correlation between Factor M of the 16PF questionnaire, which is a personality trait that ranges from praxernia to autia. In contrast, no significant correlation was found between personality traits and AS. This suggests that AS could not be predicted using personality traits and further support that personality traits, such as praxernia (happening sensitivity), could play a major role in the occurrence of state-type anxiety responses in extreme environments. In addition, the general processes of coping and adaptation in individuals participating in extreme environmental experiments are discussed.

  15. Concerns Expressed by Parents of Children with Pervasive Developmental Disorders for Different Time Periods of the Day: A Case–Control Study

    Science.gov (United States)

    Sasaki, Yoshinori; Usami, Masahide; Sasayama, Daimei; Okada, Takashi; Iwadare, Yoshitaka; Watanabe, Kyota; Ushijima, Hirokage; Tanaka, Tetsuya; Harada, Maiko; Tanaka, Hiromi; Kodaira, Masaki; Sugiyama, Nobuhiro; Sawa, Tetsuji; Saito, Kazuhiko

    2015-01-01

    Background/Aim The Questionnaire: Children with Difficulties (QCD) is a parent-assessed questionnaire designed to evaluate child’s difficulties in functioning during specific periods of the day. This study aimed to evaluate difficulties in daily functioning of children and adolescents with pervasive developmental disorder (PDD) using the QCD. Results were compared with those for a community sample. Methods A case–control design was used. The cases comprised elementary school students (182 males, 51 females) and junior high school students (100 males, 39 females) with PDD, whereas a community sample of elementary school students (568 males, 579 females) and junior high school students (180 males, 183 females) was enrolled as controls. Their behavior was assessed using the QCD, the Tokyo Autistic Behavior Scale (TABS), the ADHD-rating scale (ADHD-RS), and the Oppositional Defiant Behavior Inventory (ODBI) for elementary and junior high school students, respectively. Effects of gender and diagnosis on the QCD scores were analyzed. Correlation coefficients between QCD and TABS, ADHD-RS, and ODBI scores were analyzed. Results The QCD scores for the children with PDD were significantly lower compared with those from the community sample (P < 0.001). Significantly strong correlations were observed in more areas of the ADHD-RS and ODBI scores compared with the TABS scores. Conclusions Children with PDD experienced greater difficulties in completing basic daily activities; moreover, their QCD scores revealed stronger associations with their ADHD-RS and ODBI scores in comparison with their TABS scores. The difficulties of PDD, ADHD and OBDI symptoms combined in children makes it necessary to assess all diagnoses before any therapy for PDD is initiated in order to be able to evaluate its results properly. PMID:25898260

  16. [The Cagliari (Italy) Court authorizes the preimplantation genetic diagnosis].

    Science.gov (United States)

    Jorqui Azofra, María

    2007-01-01

    Today, preimplantation genetic diagnosis (PGD) has been greatly accepted within the framework of positive law of many European countries. Nevertheless, in other countries, such as Italy, it is forbidden by law. The ruling of the Civil Court of Cagliari which has authorized its use to a Sardinian couple, has opened, in this way, a small crack to be able to asses possible modifications to the Italian regulation on this matter. This article analyses the ruling of the Civil Court of Cagliari (Italy) from an ethical and legal perspective. The criteria which is used to analyse the legitimacy or illegitimacy of the practice of PGD is analysed. That is, on reasons which could justify or not the transfer of embryos in vitro to the woman. With this objective in mind, the Italian and Spanish normative models which regulates this controversial subject are looked at. As a conclusion, a critical evaluation of the arguments presented is made.

  17. Preimplantation genetic diagnosis and rational choice under risk or uncertainty.

    Science.gov (United States)

    Zuradzki, Tomasz

    2014-11-01

    In this paper I present an argument in favour of a parental duty to use preimplantation genetic diagnosis (PGD). I argue that if embryos created in vitro were able to decide for themselves in a rational manner, they would sometimes choose PGD as a method of selection. Couples, therefore, should respect their hypothetical choices on a principle similar to that of patient autonomy. My thesis shows that no matter which moral doctrine couples subscribe to, they ought to conduct the PGD procedure in the situations when it is impossible to implant all of the created embryos and if there is a significant risk for giving birth to a child with a serious condition. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  18. Preimplantation Genetic Testing in the 21st Century: Uncharted Territory

    Directory of Open Access Journals (Sweden)

    Paul R. Brezina MD, MBA

    2013-01-01

    Full Text Available The past hundred years have given birth to arguably the most profound changes in society, medicine, and technology the world has ever witnessed. Genetics is one such field that has enjoyed a meteoric rise during this time. Progressing from Mendelian genetics to the discovery of DNA to the ability to sequence the human genome, perhaps no other discipline holds more promise to affect future change than genetics. Technology currently exists to evaluate some of the genetic information held by developing embryos in the context of an in vitro fertilization (IVF cycle. This information is then used to determine which embryos are selected for uterine transfer. Many societies have enacted legislation to protect against possible abuses utilizing this technology. However, it is incumbent upon society to continue ensuring that preimplantation genetic diagnosis (PGD–-and genetic testing in general–-is applied in a way that utilizes its potential in a responsible manner to improve health care.

  19. Recent advances in preimplantation genetic diagnosis and screening.

    Science.gov (United States)

    Lu, Lina; Lv, Bo; Huang, Kevin; Xue, Zhigang; Zhu, Xianmin; Fan, Guoping

    2016-09-01

    Preimplantation genetic diagnosis/screening (PGD/PGS) aims to help couples lower the risks of transmitting genetic defects to their offspring, implantation failure, and/or miscarriage during in vitro fertilization (IVF) cycles. However, it is still being debated with regard to the practicality and diagnostic accuracy of PGD/PGS due to the concern of invasive biopsy and the potential mosaicism of embryos. Recently, several non-invasive and high-throughput assays have been developed to help overcome the challenges encountered in the conventional invasive biopsy and low-throughput analysis in PGD/PGS. In this mini-review, we will summarize the recent progresses of these new methods for PGD/PGS and discuss their potential applications in IVF clinics.

  20. Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.

    Science.gov (United States)

    Besser, Andria G; Mounts, Emily L

    2017-04-01

    The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos. This is the first commentary to thoroughly address pre- and post-test genetic counselling recommendations, as well as considerations regarding prenatal screening and diagnosis. Current data on mosaic PGS results are summarized along with embryo selection considerations and potential outcomes of embryos diagnosed as mosaic. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  1. The Past, Present, and Future of Preimplantation Genetic Testing.

    Science.gov (United States)

    Imudia, Anthony N; Plosker, Shayne

    2016-06-01

    Preimplantation genetic testing (PGT) of oocytes and embryos is the earliest form of prenatal testing. PGT requires in vitro fertilization for embryo creation. In the past 25 years, the use of PGT has increased dramatically. The indications of PGT include identification of embryos harboring single-gene disorders, chromosomal structural abnormalities, chromosomal numeric abnormalities, and mitochondrial disorders; gender selection; and identifying unaffected, HLA-matched embryos to permit the creation of a savior sibling. PGT is not without risks, limitations, or ethical controversies. This review discusses the techniques and clinical applications of different forms of PGT and the debate surrounding its associated uncertainty and expanded use. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Culture media for human pre-implantation embryos in assisted reproductive technology cycles.

    Science.gov (United States)

    Youssef, Mohamed M A; Mantikou, Eleni; van Wely, Madelon; Van der Veen, Fulco; Al-Inany, Hesham G; Repping, Sjoerd; Mastenbroek, Sebastiaan

    2015-11-20

    Many media are commercially available for culturing pre-implantation human embryos in assisted reproductive technology (ART) cycles. It is unknown which culture medium leads to the best success rates after ART. To evaluate the safety and effectiveness of different human pre-implantation embryo culture media in used for in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI) cycles. We searched the Cochrane Menstrual Disorders and Subfertility Group's Trials Register, Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, the National Research Register, the Medical Research Council's Clinical Trials Register and the NHS Center for Reviews and Dissemination databases from January 1985 to March 2015. We also examined the reference lists of all known primary studies, review articles, citation lists of relevant publications and abstracts of major scientific meetings. We included all randomised controlled trials which randomised women, oocytes or embryos and compared any two commercially available culture media for human pre-implantation embryos in an IVF or ICSI programme. Two review authors independently selected the studies, assessed their risk of bias and extracted data. We sought additional information from the authors if necessary. We assessed the quality of the evidence using Grades of Recommendation, Assessment, Development and Evaluation (GRADE) methods. The primary review outcome was live birth or ongoing pregnancy. We included 32 studies in this review. Seventeen studies randomised women (total 3666), three randomised cycles (total 1018) and twelve randomised oocytes (over 15,230). It was not possible to pool any of the data because each study compared different culture media.Only seven studies reported live birth or ongoing pregnancy. Four of these studies found no evidence of a difference between the media compared, for either day three or day five embryo transfer. The data from the fifth study did not appear reliable

  3. [Preimplantation genetic diagnosis and monogenic inherited eye diseases].

    Science.gov (United States)

    Hlavatá, L; Ďuďáková, Ľ; Trková, M; Soldátová, I; Skalická, P; Kousal, B; Lišková, P

    Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders. PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified). In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases

  4. Cryopreservation of preimplantation embryos of cattle, sheep, and goats.

    Science.gov (United States)

    Youngs, Curtis R

    2011-08-05

    Preimplantation embryos from cattle, sheep, and goats may be cryopreserved for short- or long-term storage. Preimplantation embryos consist predominantly of water, and the avoidance of intracellular ice crystal formation during the cryopreservation process is of paramount importance to maintain embryo viability. Embryos are placed into a hypertonic solution (1.4 - 1.5 M) of a cryoprotective agent (CPA) such as ethylene glycol (EG) or glycerol (GLYC) to create an osmotic gradient that facilitates cellular dehydration. After embryos reach osmotic equilibrium in the CPA solution, they are individually loaded in the hypertonic CPA solution into 0.25 ml plastic straws for freezing. Embryos are placed into a controlled rate freezer at a temperature of -6°C. Ice crystal formation is induced in the CPA solution surrounding the embryo, and crystallization causes an increase in the concentration of CPA outside of the embryo, causing further cellular dehydration. Embryos are cooled at a rate of 0.5°C/min, enabling further dehydration, to a temperature of -34°C before being plunged into liquid nitrogen (-196°C). Cryopreserved embryos must be thawed prior to transfer to a recipient (surrogate) female. Straws containing the embryos are removed from the liquid nitrogen dewar, held in room temperature air for 3 to 5 sec, and placed into a 37°C water bath for 25 to 30 sec. Embryos cryopreserved in GLYC are placed into a 1 M solution of sucrose for 10 min for removal of the CPA before transfer to a recipient (surrogate) female. Embryos cryopreserved in EG, however, may be directly transferred to the uterus of a recipient.

  5. A methodological overview on molecular preimplantation genetic diagnosis and screening: a genomic future?

    Science.gov (United States)

    Vendrell, Xavier; Bautista-Llácer, Rosa

    2012-12-01

    The genetic diagnosis and screening of preimplantation embryos generated by assisted reproduction technology has been consolidated in the prenatal care framework. The rapid evolution of DNA technologies is tending to molecular approaches. Our intention is to present a detailed methodological view, showing different diagnostic strategies based on molecular techniques that are currently applied in preimplantation genetic diagnosis. The amount of DNA from one single, or a few cells, obtained by embryo biopsy is a limiting factor for the molecular analysis. In this sense, genetic laboratories have developed molecular protocols considering this restrictive condition. Nevertheless, the development of whole-genome amplification methods has allowed preimplantation genetic diagnosis for two or more indications simultaneously, like the selection of histocompatible embryos plus detection of monogenic diseases or aneuploidies. Moreover, molecular techniques have permitted preimplantation genetic screening to progress, by implementing microarray-based comparative genome hybridization. Finally, a future view of the embryo-genetics field based on molecular advances is proposed. The normalization, cost-effectiveness analysis, and new technological tools are the next topics for preimplantation genetic diagnosis and screening. Concomitantly, these additions to assisted reproduction technologies could have a positive effect on the schedules of preimplantation studies.

  6. Preimplantation genetic diagnosis: a national multicenter obstetric and neonatal follow-up study.

    Science.gov (United States)

    Bay, Bjorn; Ingerslev, Hans Jakob; Lemmen, Josephine Gabriela; Degn, Birte; Rasmussen, Iben Anne; Kesmodel, Ulrik Schiøler

    2016-11-01

    To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI). Historical cohort study. Not applicable. All deliveries following PGD treatment for single gene and sex-linked disorders or structural chromosomal aberrations (n = 126 deliveries/149 children), IVF/ICSI treatment (n = 30,418 deliveries/36,115 children), and spontaneous conception (n = 896,448 deliveries/909,624 children). None. Adverse obstetric and neonatal outcomes, such as pre-eclampsia, preterm primary rupture of membranes, placenta previa, abruption of placenta, preterm birth, low birth weight, malformations, and neonatal admission. Compared with spontaneously conceived pregnancies, PGD pregnancies were at significantly increased risk of placenta previa (adjusted odds ratio [ORa] 9.1; 95% confidence interval [95% CI] 3.4, 24.9), cesarean section (ORa 2.0; 95% CI 1.3, 2.9), preterm birth (ORa 1.6; 95% CI 1.0, 2.7), shorter gestation (mean difference -3.4 days; 95% CI -5.7, -1.1 days), and longer neonatal admission (mean difference 21 days; 95% CI 15, 28 days). The risks were comparable to that of pregnancies following IVF/ICSI. In subanalyses, adverse outcomes were only present in children conceived by PGD owing to parental monogenetic disorder and comparable to those of children born to parents with monogenic disorders conceiving without PGD, except for a higher risk of placenta previa. In this cohort study, the risk of adverse obstetric and neonatal outcomes was mainly related to the underlying parental condition rather than the PGD procedure. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Postnatal development and neoplastic disease pattern in NMRI-mice after combined treatment with ethylnitrosourea and X-irradiation on different days of the fetal period

    International Nuclear Information System (INIS)

    Wiggenhauser, A.

    1987-01-01

    Mice were X-irradiated on either day 14, 15, or 16 of gestation with 1,0 Gy. This did not result in an increased tumor frequency in offspring until 12 months. Mice treated parallelly with ENU (45 mg/kg) on the same gestation days developed a significantly increased tumor frequency of the lungs and the liver in all treated groups, and of the ovaries after treatment on day 15 of gestation. This experiment was the first to show that ENU-treatment resulted in hemangiosarcomas of the subcutis at a low incidence. After combined treatment in the sequence X+ENU and an interval of 4 hours, increased tumor frequency was observed only in the offspring treated on gestation day 16. The diagnoses liver tumors and hemangiosarcomas were significantly augmented after X+ENU-treatment on day 15 and 16 and day 14 and 16, respectively. In the reverse sequence (ENU+X) the total tumor outcome was not significantly altered in comparison with the effects of ENU alone. However, detailed analysis also showed a synergistic action on liver tumor frequency on days 15 and 16. (orig./ECB) [de

  8. Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations.

    Science.gov (United States)

    Idowu, Dennis; Merrion, Katrina; Wemmer, Nina; Mash, Janine Gessner; Pettersen, Barbara; Kijacic, Dusan; Lathi, Ruth B

    2015-04-01

    To report live birth rates (LBR) and total aneuploidy rates in a series of patients with balanced translocations who pursued in vitro fertilization (IVF)-preimplantation genetic diagnosis (PGD) cycles. Retrospective cohort analysis. Genetic testing reference laboratory. Seventy-four couples who underwent IVF-PGD due to a parental translocation. IVF cycles and embryo biopsies were performed by referring clinics. Biopsy samples were sent to a single reference lab for PGD for the translocation plus 24-chromosome aneuploidy screening with the use of a single-nucleotide polymorphism (SNP) microarray. LBR per biopsy cycle, aneuploidy rate, embryo transfer (ET) rate, miscarriage rate. The LBR per IVF biopsy cycle was 38%. LBR for patients reaching ET was 52%. Clinical miscarriage rate was 10%. Despite a mean age of 33.8 years and mean of 7 embryos biopsied, there was a 30% chance for no chromosomally normal embryos. Maternal age >35 years, day 3 biopsy, and having fewer than five embryos available for biopsy increased the risk of no ET. IVF-PGD for translocation and aneuploidy screening had good clinical outcomes. Patients carrying a balanced translocation who are considering IVF-PGD should be aware of the high risk of no ET, particularly in women ≥35 years old. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  9. Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

    Science.gov (United States)

    Altarescu, Gheona; Brooks, Barry; Margalioth, Ehud; Eldar Geva, Talia; Levy-Lahad, Ephrat; Renbaum, Paul

    2007-07-01

    Preimplantation genetic diagnosis (PGD) for single gene defects is described for a family in which each parent is a carrier of both Tay-Sachs (TS) and Gaucher disease (GD). A multiplex fluorescent polymerase chain reaction protocol was developed that simultaneously amplified all four familial mutations and 10 informative microsatellite markers. In one PGD cycle, seven blastomeres were analysed, reaching a conclusive diagnosis in six out of seven embryos for TS and in five out of seven embryos for GD. Of the six diagnosed embryos, one was wild type for both TS and GD, and three were wild type for GD and carriers of TS. Two remaining embryos were compound heterozygotes for TS. Two transferable embryos developed into blastocysts (wt/wt and wt GD/carrier TS) and both were transferred on day 5. This single cycle of PGD resulted in a healthy live child. Allele drop-out (ADO) was observed in three of 34 reactions, yielding an 8% ADO rate. The occurrence of ADO in single cell analysis and undetected recombination events are primary causes of misdiagnosis in PGD and emphasize the need to use multiple polymorphic markers. So far as is known, this is the first report of concomitant PGD for two frequent Ashkenazi Jewish recessive disorders.

  10. Gestational surrogacy and the role of routine embryo screening: Current challenges and future directions for preimplantation genetic testing.

    Science.gov (United States)

    Sills, E Scott; Anderson, Robert E; McCaffrey, Mary; Li, Xiang; Arrach, Nabil; Wood, Samuel H

    2016-03-01

    Preimplantation genetic screening (PGS) is a component of IVF entailing selection of an embryo for transfer on the basis of chromosomal normalcy. If PGS were integrated with single embryo transfer (SET) in a surrogacy setting, this approach could improve pregnancy rates, minimize miscarriage risk, and limit multiple gestations. Even without PGS, pregnancy rates for IVF surrogacy cases are generally satisfactory, especially when treatment utilizes embryos derived from young oocytes and transferred to a healthy surrogate. However, there could be a more general role for PGS in surrogacy, since background aneuploidy in embryos remains a major factor driving implantation failure and miscarriage for all infertility patients. At present, the proportion of IVF cases involving GS is limited, while the number of IVF patients requesting PGS appears to be increasing. In this report, the relevance of PGS for surrogacy in the rapidly changing field of assisted fertility medicine is discussed. © 2015 Wiley Periodicals, Inc.

  11. Abell-35 Phenomena in Symbiotic Stars: Discovery of 1.2 and 6.4 Day Periods in VV8 (V471 Per

    Directory of Open Access Journals (Sweden)

    Munari U.

    2012-06-01

    Full Text Available We have collected high precision optical photometry of VV8, so far 782 individual observing runs uniformly distributed over the period 2005 - 2011. This dataset allows us to refine the known long periodicity of VV8 to P = 16.8 yr, with peak-to-valley amplitudes of ΔB = 0.18 and ΔV = 0.14 mag. In addition, we have discovered two new periodicities: 6.431 d (total amplitude ΔB = ΔV = ΔI = 0.05 mag and 1.185 d (ΔB = 0.022, ΔV = 0.018, ΔI = 0.014 mag. These two short periods are reminiscent of the Abell-35 phenomena displayed by binary nuclei of planetary nebulae that have gone through a common envelope phase. Twice the 6.431 d period would nicely correspond to the double-peaked light-curve that the G5 III star in VV8 would display if its Roche lobe would be ellipsoidally distorted.

  12. A medium-chain fatty acid as an alternative energy source in mouse preimplantation development.

    Science.gov (United States)

    Yamada, Mitsutoshi; Takanashi, Kazumi; Hamatani, Toshio; Hirayama, Akiyoshi; Akutsu, Hidenori; Fukunaga, Tomoko; Ogawa, Seiji; Sugawara, Kana; Shinoda, Kosaku; Soga, Tomoyoshi; Umezawa, Akihiro; Kuji, Naoaki; Yoshimura, Yasunori; Tomita, Masaru

    2012-01-01

    To further optimize the culturing of preimplantation embryos, we undertook metabolomic analysis of relevant culture media using capillary electrophoresis time-of-flight mass spectrometry (CE-TOFMS). We detected 28 metabolites: 23 embryo-excreted metabolites including 16 amino acids and 5 media-derived metabolites (e.g., octanoate, a medium-chain fatty acid (MCFA)). Due to the lack of information on MCFAs in mammalian preimplantation development, this study examined octanoate as a potential alternative energy source for preimplantation embryo cultures. No embryos survived in culture media lacking FAs, pyruvate, and glucose, but supplementation of octanoate rescued the embryonic development. Immunoblotting showed significant expression of acyl-CoA dehydrogenase and hydroxyacyl-CoA dehydrogenase, important enzymes for ß-oxidation of MCFAs, in preimplantation embryo. Furthermore, CE-TOFMS traced [1-(13)C(8)] octanoate added to the culture media into intermediate metabolites of the TCA cycle via ß-oxidation in mitochondria. These results are the first demonstration that octanoate could provide an efficient alternative energy source throughout preimplantation development.

  13. Preimplantation genetic diagnosis, reproductive freedom, and deliberative democracy.

    Science.gov (United States)

    Farrelly, Colin

    2009-04-01

    In this paper I argue that the account of deliberative democracy advanced by Amy Gutmann and Dennis Thompson (1996, 2004) is a useful normative theory that can help enhance our deliberations about public policy in morally pluralistic societies. More specifically, I illustrate how the prescriptions of deliberative democracy can be applied to the issue of regulating non-medical uses of pre-implantation genetic diagnosis (PGD), such as gender selection. Deliberative democracy does not aim to win a philosophical debate among rival first-order theories, such as libertarianism, egalitarianism or feminism. Rather, it advances a second-order analysis that strives to help us determine what would constitute a reasonable balance between the conflicting fundamental values that arise in the context of regulating PGD. I outline a theoretical model (called the Reasonable Genetic Intervention Model) that brings these issues to the fore. Such a model incorporates the concern for both procedural and substantive principles; and it does so in way that takes provisionality seriously.

  14. [Extending preimplantation genetic diagnosis to HLA typing: the French exception].

    Science.gov (United States)

    Steffann, Julie; Frydman, Nelly; Burlet, Philippe; Gigarel, Nadine; Hesters, Laetitia; Kerbrat, Violaine; Lamazou, Frédéric; Munnich, Arnold; Frydman, René

    2011-01-01

    Umut-Talha, a "sibling savior", was born on 26 January 2011 at Beclère Hospital after embryo selection at the Paris preimplantation genetic diagnosis (PGD) center. His birth revived the controversy over "double PGD". This procedure, authorized in France since 2006, allows couples who already have a child with a serious, incurable genetic disease, to opt for PGD in order to select a healthy embryo that is HLA-matched to the affected sibling and who may thus serve as an ombilical cord blood donor. The procedure is particularly complex and the baby take-home rate is still very low. Double PGD is strictly regulated in France, and candidate couples must first receive individual authorization from the Biomedicine Agency. In our experience, these couples have a strong desire to have children, as reflected by the large number of prior spontaneous pregnancies (25% of couples). Likewise, most of these couples request embryo transfer even when there is no HLA-matched embryo, which accounts for more than half of embryo transfers. The controversy surrounding this practice has flared up again in recent weeks, over the concepts of "designer babies" and "double savior siblings" (the baby is selected to be free of the hereditary disease, and may also serve as a stem cell donor for the affected sibling).

  15. Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.

    Science.gov (United States)

    Murphy, Erin L; Droher, Madeline L; DiMaio, Miriam S; Dahl, Neera K

    2018-03-30

    Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD). Affected individuals have a 50% chance of passing the mutation to each of their offspring. Assisted reproductive technology using preimplantation genetic diagnosis (PGD) allows these individuals to reduce this risk to 1% to 2%. We assess the disease burden of 8 individuals with ADPKD who have undergone genetic testing in preparation for PGD. Clinical features that predict high risk for progression to ESRD in patients with ADPKD include genotype, early onset of hypertension, a urologic event before age 35 years, and a large height-adjusted total kidney volume. Patients may have a family history of intracranial aneurysms or complications involving hepatic cysts, which may further influence the decision to pursue PGD. We also explore the cost, risks, and benefits of using PGD. All patients with ADPKD of childbearing potential, regardless of risk for progression to ESRD or risk for a significant disease burden, will likely benefit from genetic counseling. Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  16. [Clinical characteristics and preimplantation genetic diagnosis for male Robertsonian translocations].

    Science.gov (United States)

    Huang, Jin; Lian, Ying; Qiao, Jie; Liu, Ping

    2012-08-18

    To explore the clinical characteristics and the preimplantation genetic diagnosis (PGD) for male Robertsonian translocations. From Jan 2005 to Oct 2011, 96 PGD cycles of 80 male Robertsonian translocations were performed at the Center of Reproductive Medicine of Peking University Third Hospital, Beijing. All the couples were involved in assisted reproductive therapy because of oligozoospermia or repeated abortions. Pregnancy results and clinical characteristics were analyzed in this study. Of all the 80 Robertsonian translocation couples, 62 (77.50%, 62/80) couples suffered from primary infertility due to severe oligoospermia and 8 (10%, 8/80) couples suffered from secondary infertility due to oligoospermia. Moreover, 10 (12.50%, 10/80) couples had recurrent spontaneous abortion. Of all the 80 male Robertsonian translocations, 50 were (13; 14) translocations and 15 (14; 21) translocations. The study showed that 79 PGD cycles had the balanced embryos to transfer and 25 cycles resulted in clinical pregnancies. The clinical pregnancy rate per transfer cycle was 31.65% (25 of 79). Now, 18 couples had 21 viable infants and 3 were ongoing pregnant. Oligozoospermia is the main factor for the infertility of the male Robertsonian translocations. Artificial reproductive techniques can solve their reproductive problems. Moreover, PGD will decrease the risk of recurrent spontaneous abortion and the malformations.

  17. Review:Whole genome amplification in preimplantation genetic diagnosis

    Institute of Scientific and Technical Information of China (English)

    Ying-ming ZHENG; Ning WANG; Lei LI; Fan JIN

    2011-01-01

    Preimplantation genetic diagnosis(PGD)refers to a procedure for genetically analyzing embryos prior to implantation,improving the chance of conception for patients at high risk of transmitting specific inherited disorders.This method has been widely used for a large number of genetic disorders since the first successful application in the early 1990s.Polymerase chain reaction(PCR)and fluorescent in situ hybridization(FISH)are the two main methods in PGD,but there are some inevitable shortcomings limiting the scope of genetic diagnosis.Fortunately,different whole genome amplification(WGA)techniques have been developed to overcome these problems.Sufficient DNA can be amplified and multiple tasks which need abundant DNA can be performed.Moreover,WGA products can be analyzed as a template for multi-loci and multi-gene during the subsequent DNA analysis.In this review,we will focus on the currently available WGA techniques and their applications,as well as the new technical trends from WGA products.

  18. Saviour embryos? Preimplantation genetic diagnosis as a therapeutic technology.

    Science.gov (United States)

    Sparrow, Robert; Cram, David

    2010-05-01

    The creation of 'saviour siblings' is one of the most controversial uses of preimplantation genetic diagnosis (PGD). This paper outlines and invites ethical discussion of an extension of this technology, namely, the creation of 'saviour embryos' to serve as a source of stem cells to be used in potentially life-saving therapy for an existing child. A number of analogies between this hypothetical use of PGD and existing uses of IVF are offered and, in addition, between saviour embryos and proposed therapeutic applications of stem cell technology. The ethical significance of a number of disanalogies between these cases are explored and investigated. While the creation of saviour embryos would involve a significant shift in the rationale for IVF and PGD, it is suggested here that the urgent need of an existing individual should be prioritised over any obligations that might exist in relation to the creation or destruction of human embryos. Copyright (c) 2009 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  19. Preimplantation genetic diagnosis for gender selection in the United States

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    Colls, P.; Silver, L.; Olivera, G.; Weier, J.; Escudero, T.; Goodall, N.; Tomkin, G.; Munne, S.

    2009-08-20

    Preimplantation genetic diagnosis (PGD) of gender selection for non medical reasons has been considered an unethical procedure by several authors and agencies in the Western society on the basis of disrupting the sex ratio, being discriminatory againsts women and disposal of normal embryos of the non desired gender. In this study, the analysis of a large series of PGD procedures for gender selection from a wide geographical area in the United States, shows that in general there is no deviation in preference towards any specific gender except for a preference of males in some ethnic populations of Chinese, Indian and Middle Eastern origin that represent a small percentage of the US population. In cases where only normal embryos of the non-desired gender are available, 45.5% of the couples elect to cancel the transfer, while 54.5% of them are open to have transferred embryos of the non-desired gender, this fact being strongly linked to cultural and ethnical background of the parents. In addition this study adds some evidence to the proposition that in couples with previous children of a given gender there is no biological predisposition towards producing embryos of that same gender. Based on these facts, it seems that objections to gender selection formulated by ethics committees and scientific societies are not well-founded.

  20. Conceptus development and transcriptome at preimplantation stages in lactating dairy cows of distinct genetic groups and estrous cyclic statuses.

    Science.gov (United States)

    Ribeiro, E S; Monteiro, A P A; Bisinotto, R S; Lima, F S; Greco, L F; Ealy, A D; Thatcher, W W; Santos, J E P

    2016-06-01

    differences. Some of the altered transcripts suggest that conceptus cells from anovular cows might be under greater cellular stress and presented markers suggesting increased apoptosis and autophagy, which could lead to increased mortality after d 15 of development. Estrous cyclicity had more impact on transcriptome of bovine conceptus than genetic background, and the developmental changes observed during the preimplantation period might be linked to differences in fertility among groups. Copyright © 2016 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  1. INFORMATION TECHNOLOGIES IN THE ASSESSMENT OF THE PREIMPLANTATION GENETIC DIAGNOSIS EFFICIENCY IN THE FIELD OF ASSISTED REPRODUCTIVE TECHNOLOGIES

    Directory of Open Access Journals (Sweden)

    S. V. Denysenko

    2012-11-01

    Full Text Available Application of the information technologies is becoming increasingly important in the practice of molecular and cytogenetic analysis of chromosomal abnormalities in particular on the preimplantation level. Capacity of preimplantation diagnosis is based on fluorescent in situ hybridization (FISH and comparative genomic hybridization (CGH. Interpretation of FISH/CGH results is performed with the help of Applied Cytovision System.

  2. Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier

    Directory of Open Access Journals (Sweden)

    Laver Sarah

    2009-01-01

    Full Text Available Abstract Background Ring chromosomes are normally associated with developmental anomalies and are rarely inherited. An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to investigate the meiotic segregation at oogenesis in a woman who is a carrier of a deleted/ring 22 chromosome. The couple requested preimplantation genetic diagnosis (PGD following the birth of a son with a mosaic karyotype. The couple underwent two cycles of PGD. Studies were performed on lymphocytes, single embryonic cells removed from 3 day-old embryos and un-transferred embryos. Analysis was carried out using fluorescence in situ hybridisation (FISH with specific probe sets in two rounds of hybridization. Results In total, 12 embryos were biopsied, and follow up information was obtained for 10 embryos. No embryos were completely normal or balanced for chromosome 22 by day 5. There was only one embryo diagnosed as balanced of 12 biopsied but that accumulated postzygotic errors by day 5. Three oocytes apparently had a balanced chromosome 22 complement but all had the deleted and the ring 22 and not the intact chromosome 22. After fertilisation all the embryos accumulated postzygotic errors for chromosome 22. Conclusion The study of the preimplantation embryos in this case provided a rare and significant chance to study and understand the phenomena associated with this unusual type of anomaly during meiosis and in the earliest stages of development. It is the first reported PGD attempt for a ring chromosome abnormality.

  3. Catheter-free Period Over 2 Days Is Associated with Better Outcome in Catheter-related Bloodstream Infection due to Candida

    OpenAIRE

    Matsuo, Takahiro; Mori, Nobuyoshi; Hoshino, Eri; Sakurai, Aki; Furukawa, Keiichi

    2017-01-01

    Abstract Background Regardless of active antifungal drugs, mortality of candidemia remains high. Although it is well-known that central venous catheter (CVC) is one of the most important risk factors of candidemia and should be removed immediately, little is known about optimal timing of CVC replacement after removal. Here, we analyzed contributing risk factors associated with 30-day mortality for catheter-related bloodstream infection (CRBSI) due to candida and optimal timing of CVC replacem...

  4. Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development

    Science.gov (United States)

    McCoy, Rajiv C.; Demko, Zachary P.; Ryan, Allison; Banjevic, Milena; Hill, Matthew; Sigurjonsson, Styrmir; Rabinowitz, Matthew; Petrov, Dmitri A.

    2015-01-01

    Whole-chromosome imbalances affect over half of early human embryos and are the leading cause of pregnancy loss. While these errors frequently arise in oocyte meiosis, many such whole-chromosome abnormalities affecting cleavage-stage embryos are the result of chromosome missegregation occurring during the initial mitotic cell divisions. The first wave of zygotic genome activation at the 4–8 cell stage results in the arrest of a large proportion of embryos, the vast majority of which contain whole-chromosome abnormalities. Thus, the full spectrum of meiotic and mitotic errors can only be detected by sampling after the initial cell divisions, but prior to this selective filter. Here, we apply 24-chromosome preimplantation genetic screening (PGS) to 28,052 single-cell day-3 blastomere biopsies and 18,387 multi-cell day-5 trophectoderm biopsies from 6,366 in vitro fertilization (IVF) cycles. We precisely characterize the rates and patterns of whole-chromosome abnormalities at each developmental stage and distinguish errors of meiotic and mitotic origin without embryo disaggregation, based on informative chromosomal signatures. We show that mitotic errors frequently involve multiple chromosome losses that are not biased toward maternal or paternal homologs. This outcome is characteristic of spindle abnormalities and chaotic cell division detected in previous studies. In contrast to meiotic errors, our data also show that mitotic errors are not significantly associated with maternal age. PGS patients referred due to previous IVF failure had elevated rates of mitotic error, while patients referred due to recurrent pregnancy loss had elevated rates of meiotic error, controlling for maternal age. These results support the conclusion that mitotic error is the predominant mechanism contributing to pregnancy losses occurring prior to blastocyst formation. This high-resolution view of the full spectrum of whole-chromosome abnormalities affecting early embryos provides insight

  5. Transition from blastomere to trophectoderm biopsy: comparing two preimplantation genetic testing for aneuploidies strategies.

    Science.gov (United States)

    Coll, Lluc; Parriego, Mònica; Boada, Montserrat; Devesa, Marta; Arroyo, Gemma; Rodríguez, Ignacio; Coroleu, Bonaventura; Vidal, Francesca; Veiga, Anna

    2018-05-25

    SummaryShortly after the implementation of comprehensive chromosome screening (CCS) techniques for preimplantation genetic testing for aneuploidies (PGT-A), the discussion about the transition from day 3 to blastocyst stage biopsy was initiated. Trophectoderm biopsy with CCS is meant to overcome the limitations of cleavage-stage biopsy and single-cell analysis. The aim of this study was to assess the results obtained in our PGT-A programme after the implementation of this new strategy. Comparisons between the results obtained in 179 PGT-A cycles with day 3 biopsy (D+3) and fresh embryo transfer, and 204 cycles with trophectoderm biopsy and deferred (frozen-thawed) embryo transfer were established. Fewer embryos were biopsied and a higher euploidy rate was observed in the trophectoderm biopsy group. No differences in implantation (50.3% vs. 61.4%) and clinical pregnancy rate per transfer (56.1% vs. 65.3%) were found. Although the mean number of euploid embryos per cycle did not differ between groups (1.5 ± 1.7 vs. 1.7 ± 1.8), the final number of euploid blastocysts available for transfer per cycle was significantly higher in the trophectoderm biopsy group (1.1 ± 1.3 vs. 1.7 ± 1.8). This factor led to an increased cumulative live birth rate in this last group (34.1% vs. 44.6%). Although both strategies can offer good results, trophectoderm biopsy offers a more robust diagnosis and the intervention is less harmful for the embryos so more euploid blastocysts are finally available for transfer and/or vitrification.

  6. Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development.

    Directory of Open Access Journals (Sweden)

    Rajiv C McCoy

    2015-10-01

    Full Text Available Whole-chromosome imbalances affect over half of early human embryos and are the leading cause of pregnancy loss. While these errors frequently arise in oocyte meiosis, many such whole-chromosome abnormalities affecting cleavage-stage embryos are the result of chromosome missegregation occurring during the initial mitotic cell divisions. The first wave of zygotic genome activation at the 4-8 cell stage results in the arrest of a large proportion of embryos, the vast majority of which contain whole-chromosome abnormalities. Thus, the full spectrum of meiotic and mitotic errors can only be detected by sampling after the initial cell divisions, but prior to this selective filter. Here, we apply 24-chromosome preimplantation genetic screening (PGS to 28,052 single-cell day-3 blastomere biopsies and 18,387 multi-cell day-5 trophectoderm biopsies from 6,366 in vitro fertilization (IVF cycles. We precisely characterize the rates and patterns of whole-chromosome abnormalities at each developmental stage and distinguish errors of meiotic and mitotic origin without embryo disaggregation, based on informative chromosomal signatures. We show that mitotic errors frequently involve multiple chromosome losses that are not biased toward maternal or paternal homologs. This outcome is characteristic of spindle abnormalities and chaotic cell division detected in previous studies. In contrast to meiotic errors, our data also show that mitotic errors are not significantly associated with maternal age. PGS patients referred due to previous IVF failure had elevated rates of mitotic error, while patients referred due to recurrent pregnancy loss had elevated rates of meiotic error, controlling for maternal age. These results support the conclusion that mitotic error is the predominant mechanism contributing to pregnancy losses occurring prior to blastocyst formation. This high-resolution view of the full spectrum of whole-chromosome abnormalities affecting early embryos

  7. Living Day by Day

    Science.gov (United States)

    Kaplan, Rachel L.; Khoury, Cynthia El; Field, Emily R. S.; Mokhbat, Jacques

    2016-01-01

    We examined the meaning of living with HIV/AIDS among women in Lebanon. Ten women living with HIV/AIDS (WLWHA) described their experiences via semistructured in-depth interviews. They navigated a process of HIV diagnosis acceptance that incorporated six overlapping elements: receiving the news, accessing care, starting treatment, navigating disclosure decisions, negotiating stigma, and maintaining stability. Through these elements, we provide a framework for understanding three major themes that were constructed during data analysis: Stand by my side: Decisions of disclosure; Being “sick” and feeling “normal”: Interacting with self, others, and society; and Living day by day: focusing on the present. We contribute to the existing literature by providing a theoretical framework for understanding the process of diagnosis and sero-status acceptance among WLWHA. This was the first study of its kind to examine the meaning of living with HIV/AIDS among women in a Middle Eastern country. PMID:28462340

  8. Living Day by Day

    Directory of Open Access Journals (Sweden)

    Rachel L. Kaplan

    2016-05-01

    Full Text Available We examined the meaning of living with HIV/AIDS among women in Lebanon. Ten women living with HIV/AIDS (WLWHA described their experiences via semistructured in-depth interviews. They navigated a process of HIV diagnosis acceptance that incorporated six overlapping elements: receiving the news, accessing care, starting treatment, navigating disclosure decisions, negotiating stigma, and maintaining stability. Through these elements, we provide a framework for understanding three major themes that were constructed during data analysis: Stand by my side: Decisions of disclosure; Being “sick” and feeling “normal”: Interacting with self, others, and society; and Living day by day: focusing on the present. We contribute to the existing literature by providing a theoretical framework for understanding the process of diagnosis and sero-status acceptance among WLWHA. This was the first study of its kind to examine the meaning of living with HIV/AIDS among women in a Middle Eastern country.

  9. In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study.

    Science.gov (United States)

    Rubio, Carmen; Bellver, José; Rodrigo, Lorena; Castillón, Gema; Guillén, Alfredo; Vidal, Carmina; Giles, Juan; Ferrando, Marcos; Cabanillas, Sergio; Remohí, José; Pellicer, Antonio; Simón, Carlos

    2017-05-01

    To determine the clinical value of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) in women of advanced maternal age (AMA; between 38 and 41 years). This was a multicenter, randomized trial with two arms: a PGD-A group with blastocyst transfer, and a control group with blastocyst transfer without PGD-A. Private reproductive centers. A total of 326 recruited patients fit the inclusion criteria, and 205 completed the study (100 in the PGD-A group and 105 in the control group). Day-3 embryo biopsy, array comparative genomic hybridization, blastocyst transfer, and vitrification. Primary outcomes were delivery and live birth rates in the first transfer and cumulative outcome rates. The PGD-A group exhibited significantly fewer ETs (68.0% vs. 90.5% for control) and lower miscarriage rates (2.7% vs. 39.0% for control). Delivery rate after the first transfer attempt was significantly higher in the PGD-A group per transfer (52.9% vs 24.2%) and per patient (36.0% vs. 21.9%). No significant differences were observed in the cumulative delivery rates per patient 6 months after closing the study. However, the mean number of ETs needed per live birth was lower in the PGD-A group compared with the control group (1.8 vs. 3.7), as was the time to pregnancy (7.7 vs. 14.9 weeks). Preimplantation genetic diagnosis for aneuploidy screening is superior compared with controls not only in clinical outcome at the first ET but also in dramatically decreasing miscarriage rates and shortening the time to pregnancy. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  10. Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome.

    Science.gov (United States)

    Onalan, Gogsen; Yilmaz, Zerrin; Durak, Tulay; Sahin, Feride Iffet; Zeyneloglu, Hulusi Bulent

    2011-04-01

    To determine the efficacy of the preimplantation cytogenetic analysis of the embryos obtained from patient with mosaic Turner syndrome before an IVF program. Prospective cytogenetic analysis. University-based tertiary medical center. A 29 year-old female, a partner in a couple with male factor infertility, was diagnosed with mosaic Turner syndrome with a 45,X [17]/46,XX [13] karyotype. Preimplantation genetic diagnosis was performed on four blastomeres obtained from four different embryos by fluorescence in situ hybridization probes specific to chromosomes X, Y, 13, 18, 21 in an intracytoplasmic sperm injection cycle. Blastomeres with normal signals. Two blastomeres detected as normal were transferred and pregnancy was achieved. Preimplantation Genetic Diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  11. Preimplantation Genetic Diagnosis: The Situation in France and in Other European Countries.

    Science.gov (United States)

    Duguet, Anne-Marie; Boyer-Beviere, Bénédicte

    2017-04-01

    Preimplantation genetic diagnosis (PGD) relates exclusively to in vitro fertilisation techniques (IVF) that aim to prevent transmission of a serious genetic abnormality to the child. The genetic characteristics of the embryo created through IVF are analysed, and only the embryos free of the genetic abnormality are implanted in the womb. Performed worldwide since 1990, this technique has raised many legal and ethical debates due to the very wide variations of lawgiving between countries. This is shown by the report of the UNESCO IBC (2003), which described the techniques and the issues raised by preimplantation genetic diagnosis. In this article, the authors present the differences between prenatal diagnosis and preimplantation genetic diagnosis, the French legislation, then the range of legislation in Europe and finally the position of the European Court of Human Rights which sanctioned Italy and Latvia for refusing access to PGD.

  12. Public Perceptions of Ethical, Legal and Social Implications of Pre-implantation Genetic Diagnosis (PGD) in Malaysia.

    Science.gov (United States)

    Olesen, Angelina P; Mohd Nor, Siti Nurani; Amin, Latifah; Che Ngah, Anisah

    2017-12-01

    Pre-implantation genetic diagnosis (PGD) became well known in Malaysia after the birth of the first Malaysian 'designer baby', Yau Tak in 2004. Two years later, the Malaysian Medical Council implemented the first and only regulation on the use of Pre-implantation Genetic Diagnosis in this country. The birth of Yau Tak triggered a public outcry because PGD was used for non-medical sex selection thus, raising concerns about PGD and its implications for the society. This study aims to explore participants' perceptions of the future implications of PGD for the Malaysian society. We conducted in-depth interviews with 21 participants over a period of one year, using a semi-structured questionnaire. Findings reveal that responses varied substantially among the participants; there was a broad acceptance as well as rejection of PGD. Contentious ethical, legal and social issues of PGD were raised during the discussions, including intolerance to and discrimination against people with genetic disabilities; societal pressure and the 'slippery slope' of PGD were raised during the discussions. This study also highlights participants' legal standpoint, and major issues regarding PGD in relation to the accuracy of diagnosis. At the social policy level, considerations are given to access as well as the impact of this technology on families, women and physicians. Given these different perceptions of the use of PGD, and its implications and conflicts, policies and regulations of the use of PGD have to be dealt with on a case-by-case basis while taking into consideration of the risk-benefit balance, since its application will impact the lives of so many people in the society.

  13. Preliminar toxicological assesement of Ruta graveolens, Origanum vulgare and Persea americana on the preimplantational mouse embryos

    Directory of Open Access Journals (Sweden)

    V. Benavides

    2014-06-01

    Full Text Available The growing interest in natural medicine makes it necessary to study plant properties as well as their possible secondary effects. In recent years the toxic effects of many medicinal plants on the preimplantational mouse embryo development have been studied. Many of them produce malformations and alterations in the embryonic development. Ruta graveolens "ruda", Origanum vulgare "oregano" and Persea americana "palta" are used in rural areas to menstrual colic and to provoke abortion (estrella, 1995. This study is aimed at assessing "in vivd'the effect of extracts of "oregano", "ruda" and "palta" to 20% on the morphology and growth of preimplantational mouse embryos.

  14. The gastrointestinal tract of farmed mink (Neovison vison ) maintains a diverse mucosa-associated microbiota following a 3-day fasting period

    DEFF Research Database (Denmark)

    Bahl, Martin Iain; Hammer, Anne S.; Clausen, Tove

    2017-01-01

    Although it is well documented that the gut microbiota plays an important role in health and disease in mammalian species, this area has been poorly studied among carnivorous animals, especially within the mustelidae family. The gastrointestinal tract of carnivores is characterized by its short...... length and fast transit time, as compared to omnivores and herbivores, which is due to the low level of inherent fermentation. Mink represents an example of this, which have a GI tract only four times the length of the body and a transit time of approximately 4–5 hr. In this study, we used high...... interindividual differences in bacterial composition between individual animals being dominated generally by the phylum Firmicutes, but in some cases also Proteobacteria or Fusobacteria. The bacterial load and community structure within the mucus was not severely impacted by 3 days of fasting, which implies...

  15. Economic performance of lactating dairy cows submitted for first service timed artificial insemination after a voluntary waiting period of 60 or 88 days.

    Science.gov (United States)

    Stangaferro, M L; Wijma, R; Masello, M; Thomas, Mark J; Giordano, J O

    2018-05-23

    The objective of this study was to evaluate the economic performance of dairy cows managed with a voluntary waiting period (VWP) of 60 or 88 d. A secondary objective was estimating variation in cash flow under different input pricing scenarios through stochastic Monte Carlo simulations. Lactating Holstein cows from 3 commercial farms were blocked by parity group and total milk yield in their previous lactation and then randomly assigned to a VWP of 60 (VWP60; n = 1,352) or 88 d (VWP88; n = 1,359). All cows received timed-artificial insemination (TAI) for first service after synchronization of ovulation with the Double-Ovsynch protocol. For second and greater services, cows received artificial insemination (AI) after detection of estrus or the Ovsynch protocol initiated 32 ± 3 d after AI. Two analyses were performed: (1) cash flow per cow for the calving interval of the experimental lactation and (2) cash flow per slot occupied by each cow enrolled in the experiment for an 18-mo period after calving in the experimental lactation. Extending the VWP from 60 to 88 d delayed time to pregnancy during lactation (~20 d) and increased the risk of leaving the herd for multiparous cows (hazard ratio = 1.21). As a result, a smaller proportion of multiparous cows calved again and had a subsequent lactation (-6%). The shift in time to pregnancy combined with the herd exit dynamics resulted in longer lactation length for primiparous (22 d) but not multiparous cows. Longer lactations led to greater milk income over feed cost and a tendency for greater cash flow during the experimental lactation for primiparous but not multiparous cows in the VWP88 group. On the other hand, profitability per slot for the 18-mo period was numerically greater ($68 slot/18 mo) for primiparous cows but numerically reduced (-$85 slot/18 mo) for multiparous cows in the VWP88 treatment. For primiparous cows most of the difference in cash flow was explained by replacement cost, whereas for multiparous

  16. Collagen content in the vastus lateralis and the soleus muscle following a 90-day bed rest period with or without resistance exercises

    DEFF Research Database (Denmark)

    Nielsen, Rasmus Oestergaard; Schjerling, Peter; Tesch, Per

    2015-01-01

    training serves as a proxy for the conditions in space. Therefore, ground-based studies may improve the understanding of the consequences of long-term inactivity. PURPOSE: the purpose is to compare the change in collagen protein in the vastus lateralis (VL) and the soleus (SOL) muscle amongst persons......INTRODUCTION: spaceflight seems associated with deterioration of the function of the skeletal muscles. Since muscle collagen is critical for muscle function, an improved understanding of the content of the muscle collagen during long-term inactivity seems important. Bed-rest with in-bed resistance...... collagen/mg protein [95% CI: -25.6; 12.6], p=0.50). There was no difference in the effect of BR versus BRE over time (mean difference -2.78 μg collagen/mg protein [95% CI: -29.7; 24.1], p=0.82). CONCLUSION: muscle collagen content in the VL or SOL muscle does not seem to differ after a 90-day bed rest...

  17. Birth of healthy children after preimplantation diagnosis of β-thalassemia

    Institute of Scientific and Technical Information of China (English)

    焦泽旭; 庄广伦; 周灿权; 舒益民; 李洁; 梁晓燕

    2004-01-01

    Background Clinical programs for preventing β-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with β-thalassemia.Methods A couple carrying different thalassemia mutations, both a codon 41-42 mutation and the IVS Ⅱ 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed.Results Of a total of 13 embryos analyzed for β-globin mutations, PGD indicated that 2 were normal,3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD.Conclusions We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of β-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed β-thalassemia free children in China. PEP was used here in PGD for β-thalassemia.

  18. EGF increases expression and activity of PAs in preimplantation rat embryos and their implantation rate

    Directory of Open Access Journals (Sweden)

    Har-Vardi Iris

    2007-01-01

    Full Text Available Abstract Background Embryo implantation plays a major role in embryogenesis and the outcome of pregnancy. Plasminogen activators (PAs have been implicated in mammalian fertilization, early stages of development and embryo implantation. As in-vitro developing embryos resulted in lower implantation rate than those developed in-vivo we assume that a reduced PAs activity may be involved. In the present work we studied the effect of EGF on PAs activity, quantity and embryo implantation. Methods Zygotes were flushed from rat oviducts on day one of pregnancy and grown in-vitro in R1ECM supplemented with EGF (10 ng/ml and were grown up to the blastocyst stage. The control groups were grown in the same medium without EGF. The distribution and quantity of the PAs were examined using fluorescence immunohistochemistry followed by measurement of PAs activity using the chromogenic assay. Implantation rate was studied using the embryo donation model. Results PAs distribution in the embryos was the same in EGF treated and untreated embryos. Both PAs were localized in the blastocysts' trophectoderm, supporting the assumption that PAs play a role in the implantation process in rats. EGF increased the quantity of uPA at all stages studied but the 8-cell stage as compared with controls. The tissue type PA (tPA content was unaffected except the 8-cell stage, which was increased. The activity of uPA increased gradually towards the blastocyst stage and more so due to the presence of EGF. The activity of tPA did not vary with the advancing developmental stages although it was also increased by EGF. The presence of EGF during the preimplantation development doubled the rate of implantation of the treated group as compared with controls.

  19. The impact of a 17-day training period for an international championship on mucosal immune parameters in top-level basketball players and staff members.

    Science.gov (United States)

    Moreira, Alexandre; Arsati, Franco; Cury, Patrícia Ramos; Franciscon, Clóvis; Simões, Antonio Carlos; de Oliveira, Paulo Roberto; de Araújo, Vera Cavalcanti

    2008-10-01

    This investigation examined the impact of a 17-d training period (that included basketball-specific training, sprints, intermittent running exercises, and weight training, prior to an international championship competition) on salivary immunoglobulin A (SIgA) levels in 10 subjects (athletes and staff members) from a national basketball team, as a biomarker for mucosal immune defence. Unstimulated saliva samples were collected at rest at the beginning of the preparation for the Pan American Games and 1 d before the first game. The recovery interval from the last bout of exercise was 4 h. The SIgA level was measured using enzyme-linked immunosorbent assay and expressed as absolute concentrations, secretion rate, and SIgA level relative to total protein. The decrease in SIgA levels following training was greater in athletes than in support staff; however, no significant differences between the two groups were detected. A decrease in SIgA level, regardless of the method used to express IgA results, was verified for athletes. Only one episode of upper respiratory tract illness symptoms was reported, and it was not associated with changes in SIgA levels. In summary, a situation of combined stress for an important championship was found to decrease the level of SIgA-mediated immune protection at the mucosal surface in team members, with greater changes observed in the athletes.

  20. Optimization of phase feeding of starter, grower, and finisher diets for male broilers by mixture experimental design: forty-eight-day production period.

    Science.gov (United States)

    Roush, W B; Boykin, D; Branton, S L

    2004-08-01

    A mixture experiment, a variant of response surface methodology, was designed to determine the proportion of time to feed broiler starter (23% protein), grower (20% protein), and finisher (18% protein) diets to optimize production and processing variables based on a total production time of 48 d. Mixture designs are useful for proportion problems where the components of the experiment (i.e., length of time the diets were fed) add up to a unity (48 d). The experiment was conducted with day-old male Ross x Ross broiler chicks. The birds were placed 50 birds per pen in each of 60 pens. The experimental design was a 10-point augmented simplex-centroid (ASC) design with 6 replicates of each point. Each design point represented the portion(s) of the 48 d that each of the diets was fed. Formulation of the diets was based on NRC standards. At 49 d, each pen of birds was evaluated for production data including BW, feed conversion, and cost of feed consumed. Then, 6 birds were randomly selected from each pen for processing data. Processing variables included live weight, hot carcass weight, dressing percentage, fat pad percentage, and breast yield (pectoralis major and pectoralis minor weights). Production and processing data were fit to simplex regression models. Model terms determined not to be significant (P > 0.05) were removed. The models were found to be statistically adequate for analysis of the response surfaces. A compromise solution was calculated based on optimal constraints designated for the production and processing data. The results indicated that broilers fed a starter and finisher diet for 30 and 18 d, respectively, would meet the production and processing constraints. Trace plots showed that the production and processing variables were not very sensitive to the grower diet.

  1. Ethical issues in new uses of preimplantation genetic diagnosis: should parents be allowed to use preimplantation genetic diagnosis to choose the sexual orientation of their children?

    Science.gov (United States)

    Dahl, Edgar

    2003-07-01

    Extending the application of preimplantation genetic diagnosis (PGD) to screen embryos for non-medical traits such as gender, height and intelligence, raises serious moral, legal, and social issues. In this paper I consider the possibility of using PGD to select the sexual orientation of offspring. After considering five potential objections, I conclude that parents should be permitted to use PGD to choose the sexual orientation of their children.

  2. Effects of a combination of X-rays and caffeine on preimplantation mouse embryos in vitro

    International Nuclear Information System (INIS)

    Mueller, W.U.; Streffer, C.; Fischer-Lahdo, C.

    1983-01-01

    The influence of a combination of caffeine (0.1 mM, 1 mM, or 2 mM) and X-rays (0.24 Gy, 0.94 Gy, or 1.88 Gy) on preimplantation mouse embryos in vitro was studied under different conditions. The agents were applied either singly or in combination. The embryos were irradiated in the G 2 -phase of the two-cell stage (28 h p.c. or 32 h p.c.) either 1 h after or immediately before application of caffeine. Caffeine was present during the whole incubation period (until 144 h p.c.). The effects on the microscopic visible development (formation of blastocysts 96 h p.c., hatching of blastocysts 144 h p.c.) and on the cell numbers of embryos at different times (48 h p.c., 56 h p.c., 96 h p.c., 144 h p.c.) were determined. We found conditions under which caffeine markedly enhanced radiation risk, i.e., under which the combination effect exceeded the sum of the single effects. This is true, in particular, for the embryonal development, for which the risk may almost be doubled, whereas the enhancement of risk is not so great for the proliferation of cells. In some cases the combination results lie even outside the envelope of additivity in the range of supra-additivity. The amount of caffeine necessary for such marked effects, however, is so high (at least 1 mM caffeine for rather long times), that it is almost impossible to reach them in vivo by consumption of caffeine-containing beverages. (orig.)

  3. Toward an ethical eugenics: the case for mandatory preimplantation genetic selection.

    Science.gov (United States)

    Appel, Jacob M

    2012-01-01

    Preimplantation genetic diagnosis offers the possibility of screening and terminating embryos with severe and life-threatening disabilities. This article argues that under certain conditions, the use of this technology is not merely desirable as a means to reduce human suffering but also an ethically required duty of a parent to a potential child.

  4. Ethical challenges in assisted reproduction: the place of preimplantation genetic diagnosis in a just society.

    Science.gov (United States)

    Whetstine, Leslie M

    2015-04-01

    The purpose of this article is to provide an overview of preimplantation genetic diagnosis and identify the relevant moral questions it raises. In the course of this discussion, the scope of parental rights and the inherent difficulty in defining disease/disability will be considered. © The Author(s) 2013.

  5. Maternal Diabetes Leads to Unphysiological High Lipid Accumulation in Rabbit Preimplantation Embryos

    NARCIS (Netherlands)

    Schindler, Maria; Pendzialek, Mareike; Santos, Alexander Navarrete; Ploesch, Torsten; Seyring, Stefanie; Guerke, Jacqueline; Haucke, Elisa; Knelangen, Julia Miriam; Fischer, Bernd; Santos, Anne Navarrete

    According to the "developmental origin of health and disease" hypothesis, the metabolic set points of glucose and lipid metabolism are determined prenatally. In the case of a diabetic pregnancy, the embryo is exposed to higher glucose and lipid concentrations as early as during preimplantation

  6. Differential expression of parental alleles of BRCA1 in human preimplantation embryos

    Science.gov (United States)

    Tulay, Pinar; Doshi, Alpesh; Serhal, Paul; SenGupta, Sioban B

    2017-01-01

    Gene expression from both parental genomes is required for completion of embryogenesis. Differential methylation of each parental genome has been observed in mouse and human preimplantation embryos. It is possible that these differences in methylation affect the level of gene transcripts from each parental genome in early developing embryos. The aim of this study was to investigate if there is a parent-specific pattern of BRCA1 expression in human embryos and to examine if this affects embryo development when the embryo carries a BRCA1 or BRCA2 pathogenic mutation. Differential parental expression of ACTB, SNRPN, H19 and BRCA1 was semi-quantitatively analysed by minisequencing in 95 human preimplantation embryos obtained from 15 couples undergoing preimplantation genetic diagnosis. BRCA1 was shown to be differentially expressed favouring the paternal transcript in early developing embryos. Methylation-specific PCR showed a variable methylation profile of BRCA1 promoter region at different stages of embryonic development. Embryos carrying paternally inherited BRCA1 or 2 pathogenic variants were shown to develop more slowly compared with the embryos with maternally inherited BRCA1 or 2 pathogenic mutations. This study suggests that differential demethylation of the parental genomes can influence the early development of preimplantation embryos. Expression of maternal and paternal genes is required for the completion of embryogenesis. PMID:27677417

  7. Toxicity of beauvericin on porcine oocyte maturation and preimplantation embryo development

    NARCIS (Netherlands)

    Schoevers, Eric J; Santos, Regiane R; Fink-Gremmels, Johanna; Roelen, Bernard A J

    2016-01-01

    Beauvericin (BEA) is one of many toxins produced by Fusarium species that contaminate feed materials. The aim of this study was to assess its effects on porcine oocyte maturation and preimplantation embryo development. Cumulus-oocyte-complexes and developing embryos were exposed to BEA and cultured

  8. Preimplantation genetic diagnosis: does age of onset matter (anymore)?

    Science.gov (United States)

    Krahn, Timothy

    2009-06-01

    The identification and avoidance of disease susceptibility in embryos is the most common goal of preimplantation genetic diagnosis (PGD). Most jurisdictions that accept but regulate the availability of PGD restrict it to what are characterized as 'serious' conditions. Line-drawing around seriousness is not determined solely by the identification of a genetic mutation. Other factors seen to be relevant include: impact on health or severity of symptoms; degree of penetrance (probability of genotype being expressed as a genetic disorder); potential for therapy; rate of progression; heritability; and age of onset. In the original applications of PGD, most, if not all of these factors were seen as necessary but none was seen as sufficient for determining whether a genetic condition was labelled 'serious'. This, however, is changing as impact on health or severity of symptoms is coming to eclipse the other considerations. This paper investigates how age of onset (primarily in the context of the United Kingdom (UK)) has become considerably less significant as a criterion for determining ethically acceptable applications of PGD. Having moved off the threshold of permitting PGD testing for only fatal (or seriously debilitating), early-onset diseases, I will investigate reasons for why age of onset will not do any work to discriminate between which adult-onset diseases should be considered serious or not. First I will explain the rationale underpinning age of onset as a factor to be weighed in making determinations of seriousness. Next I will challenge the view that later-onset conditions are less serious for being later than earlier-onset conditions. The final section of the paper will discuss some of the broader disability concerns at stake in limiting access to PGD based upon determinations of the 'seriousness' of genetic conditions. Instead of advocating a return to limiting PGD to only early-onset conditions, I conclude that the whole enterprise of trying to draw lines

  9. Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?

    Science.gov (United States)

    Brezina, Paul R; Anchan, Raymond; Kearns, William G

    2016-07-01

    The purpose of the review was to define the various diagnostic platforms currently available to perform preimplantation genetic testing for aneuploidy and describe in a clear and balanced manner the various strengths and weaknesses of these technologies. A systematic literature review was conducted. We used the terms "preimplantation genetic testing," "preimplantation genetic diagnosis," "preimplantation genetic screening," "preimplantation genetic diagnosis for aneuploidy," "PGD," "PGS," and "PGD-A" to search through PubMed, ScienceDirect, and Google Scholar from the year 2000 to April 2016. Bibliographies of articles were also searched for relevant studies. When possible, larger randomized controlled trials were used. However, for some emerging data, only data from meeting abstracts were available. PGS is emerging as one of the most valuable tools to enhance pregnancy success with assisted reproductive technologies. While all of the current diagnostic platforms currently available have various advantages and disadvantages, some platforms, such as next-generation sequencing (NGS), are capable of evaluating far more data points than has been previously possible. The emerging complexity of different technologies, especially with the utilization of more sophisticated tools such as NGS, requires an understanding by clinicians in order to request the best test for their patients.. Ultimately, the choice of which diagnostic platform is utilized should be individualized to the needs of both the clinic and the patient. Such a decision must incorporate the risk tolerance of both the patient and provider, fiscal considerations, and other factors such as the ability to counsel patients on their testing results and how these may or may not impact clinical outcomes.

  10. Proof of concept: preimplantation genetic screening without embryo biopsy through analysis of cell-free DNA in spent embryo culture media.

    Science.gov (United States)

    Shamonki, Mousa I; Jin, Helen; Haimowitz, Zachary; Liu, Lian

    2016-11-01

    To assess whether preimplantation genetic screening (PGS) is possible by testing for free embryonic DNA in spent IVF media from embryos undergoing trophectoderm biopsy. Prospective cohort analysis. Academic fertility center. Seven patients undergoing IVF and 57 embryos undergoing trophectoderm biopsy for PGS. On day 3 of development, each embryo was placed in a separate media droplet. All biopsied embryos received a PGS result by array comparative genomic hybridization. Preimplantation genetic screening was performed on amplified DNA extracted from media and results were compared with PGS results for the corresponding biopsy. [1] Presence of DNA in spent IVF culture media. [2] Correlation between genetic screening result from spent media and corresponding biopsy. Fifty-five samples had detectable DNA ranging from 2-642 ng/μL after a 2-hour amplification. Six samples with the highest DNA levels underwent PGS, rendering one result with a derivative log ratio SD (DLRSD) of media and a result that is consistent with trophectoderm biopsy. Improvements in DNA collection, amplification, and testing may allow for PGS without biopsy in the future. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  11. Developmental defects and genomic instability after x-irradiation of wild-type and genetically modified mouse pre-implantation and early post-implantation embryos

    International Nuclear Information System (INIS)

    Jacquet, P

    2012-01-01

    Results obtained from the end of the 1950s suggested that ionizing radiation could induce foetal malformations in some mouse strains when administered during early pre-implantation stages. Starting in 1989, data obtained in Germany also showed that radiation exposure during that period could lead to a genomic instability in the surviving foetuses. Furthermore, the same group reported that both malformations and genomic instability could be transmitted to the next generation foetuses after exposure of zygotes to relatively high doses of radiation. As such results were of concern for radiation protection, we investigated this in more detail during recent years, using mice with varying genetic backgrounds including mice heterozygous for mutations involved in important cellular processes like DNA repair, cell cycle regulation or apoptosis. The main parameters which were investigated included morphological development, genomic instability and gene expression in the irradiated embryos or their own progeny. The aim of this review is to critically reassess the results obtained in that field in the different laboratories and to try to draw general conclusions on the risks of developmental defects and genomic instability from an exposure of early embryos to moderate doses of ionizing radiation. Altogether and in the range of doses normally used in diagnostic radiology, the risk of induction of embryonic death and of congenital malformation following the irradiation of a newly fertilised egg is certainly very low when compared to the ‘spontaneous’ risks for such effects. Similarly, the risk of radiation induction of a genomic instability under such circumstances seems to be very small. However, this is not a reason to not apply some precaution principles when possible. One way of doing this is to restrict the use of higher dose examinations on all potentially pregnant women to the first ten days of their menstrual cycle when conception is very unlikely to have occurred

  12. Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.

    Directory of Open Access Journals (Sweden)

    Xiaokun Hu

    Full Text Available The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.During a 3-year period (January 2009 to December 2012, 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206 and 96.2% (1770/1840, respectively. In the present study, 60.5% (181/299 of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184 and 28.5% implantation rate (111/389 were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317-0.463, P = 0.000 and basal FSH level (coefficient: 0.198, 95%CI 0.031-0.365, P = 0.021. In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148-1.575, P = 0.000 and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877-0.994, P = 0.031.There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4 of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.

  13. Preimplantation maternal stress impairs embryo development by inducing oviductal apoptosis with activation of the Fas system.

    Science.gov (United States)

    Zheng, Liang-Liang; Tan, Xiu-Wen; Cui, Xiang-Zhong; Yuan, Hong-Jie; Li, Hong; Jiao, Guang-Zhong; Ji, Chang-Li; Tan, Jing-He

    2016-11-01

    What are the mechanisms by which the preimplantation restraint stress (PIRS) impairs embryo development and pregnancy outcome? PIRS impairs embryo development by triggering apoptosis in mouse oviducts and embryos,and this involves activation of the Fas system. Although it is known that the early stages of pregnancy are more vulnerable than later stages to prenatalstress, studies on the effect of preimplantation stress on embryo developmentare limited. Furthermore, the mechanisms by which psychological stress impairs embryo development are largely unknown. These issues are worth exploring using the mouse PIRS models because restraint of mice is an efficient experimental procedure developed for studies of psychogenic stress. Mice of Kunming strain, the generalized lymphoproliferative disorder (gld) mice with a germline mutation F273L in FasL in a C57BL/6J genomic background and the wild-type C57BL/6J mice were used. Female and male mice were used 8-10 weeks and 10-12 weeks after birth, respectively. Female mice showing vaginal plugs were paired by weight and randomly assigned to restraint treatments or as controls. For restraint treatment, an individual mouse was put in a micro-cage with food and water available. Control mice remained in their cages with food and water during the time treated females were stressed. Female mice were exposed to PIRS for 48 h starting from 16:00 on the day of vaginal plug detection. At the end of PIRS, levels of glucorticoids (GC), corticotropin-releasing hormone (CRH)and redox potential were measured in serum, while levels of GC, GC receptor (GR), CRH, CRH receptor (CRHR), Fas and Fas ligand (FasL) protein, mRNAs for brain derived neurotrophic factor (BDNF) and insulin-like growth factor-1 (IGF-1), oxidative stress (OS) and apoptosis were examined in oviducts. Preimplantation development and levels of GR, Fas, redox potential and apoptosis were observed in embryos recovered at different times after the initiation of PIRS. The gld mice

  14. 三伏、三九穴位贴敷对不同体质成人反复感冒的影响%Impacts on repeated common cold for the adults with different constitutions treated by acupoint application in the dog days and the three nine-day periods after the winter solstice

    Institute of Scientific and Technical Information of China (English)

    娄必丹; 曹越; 潘江; 杨礼白; 章薇; 李金香; 李小屏; 李武; 杨淑荃; 黄香红; 刘兴平

    2012-01-01

    Objective To observe the impacts on repeated common cold for the adults with different constitutions treated by acupoint application in the dog days (the three periods of the hottest days) and the three nine-day periods after the winter solstice (the three periods of the coldest days). Methods One hundred and fifty-two cases of repeated common cold were divided into four zones according to the body constitution. Each zone was sub-divided into a group of the dog days + the three nine-day periods of the coldest days (group A) , and a simple group of the dog periods (group B). In both groups, Dazhui (GV 14), Feishu (BL 13), Tiantu (CV 22), Danzhong (CV 17) , Zhongfu (LU 1) and Shenshu (BL 23) were selected. In group A, the acupoint application was given on the 1st or 2nd day of the first, second and third periods of the hottest days in 2010, as well as the 1st or 2nd day of the first, second and third periods of the coldest days in 2010 separately. In group B, the acupoint application was only given on the 1st or 2nd day of the first, second and third periods of the hottest days in 2010. The follow-up visit was conducted before the acupoint application in the three periods of the coldest days in 2010 and before the acupoint application in the three periods of the hottest days in 2011. Additionally, the frequency of disease attack and the symptom score in sickness were taken as the observation indices for the efficacy assessment in both groups. Results (1) In both groups, the attack frequency was reduced obviously in half a year after the three periods of the hottest days for the patients of qi deficiency constitution, yang deficiency constitution and qi stagnation constitution and the clinical symptom score were reduced apparently (all P<0. 01), which were superior to those for the patients of phlegm damp constitution (P<0. 01, P<0. 05). For the patients of phlegm damp constitution, only the clinical symptom score was reduced (P<0. 01). (2) In group A, the

  15. [Prevalence of use of preimplantation genetic diagnosis in Unidade Clínica de Paramiloidose from Centro Hospitalar do Porto].

    Science.gov (United States)

    Valdrez, Kátia; Alves, Elisabete; Coelho, Teresa; Silva, Susana

    2014-01-01

    The Familial Amyloid Polyneuropathy, with the world's largest focus in Portugal, is recognized by the National Board of Assisted Reproductive Technologies as a serious disease eligible for Preimplantation Genetic Diagnosis. This study aims to determine the prevalence of the use of Preimplantation Genetic Diagnosis in FAP carriers followed in Unidade Clínica de Paramiloidose, Centro Hospitalar do Porto, and to identify the associated factors. Between January and May 2013, a representative sample of Portuguese Familial Amyloid Polyneuropathy carriers, aged between 18 and 55 years, was systematically recruited. The analysis is based on 111 carriers with previous familial diagnosis, who reported having ever tried to get pregnant after 2001. Data on sociodemographic characteristics and use of Preimplantation Genetic Diagnosis were collected through a self-administered questionnaire. Proportions were compared using the chi-square test. Crude and adjusted odds ratios (OR) and the respective confidence intervals of 95% (95% CI) were estimated using multivariatelogistic regression. The prevalence of use of Preimplantation Genetic Diagnosis was 20.7% (95% CI: 13.6-29.5). After adjustment, a household income above 1000 '¬/month (OR = 11.87; 95% CI 2.87-49.15) was directly associated with the use of Preimplantation Genetic Diagnosis, while carriers with an individual diagnosis (OR = 0.15; 95% CI 0.04-0.57) and children born after 2001 (OR = 0.07; 95% CI 0.02-0.32) revealed a prevalence of use significantly lower than those with a individual diagnosis and children born before 2001. The low prevalence of use of Preimplantation Genetic Diagnosis, as well as the less frequent use of the technique by those with a lower household income, shows the importance of improving access to Preimplantation Genetic Diagnosis in the case of Familial Amyloid Polyneuropathy. This work contributes to increase the sensitivity of health professionals around the use and accessibility to

  16. Use of preimplantation genetic diagnosis and preimplantation genetic screening in the United States: a Society for Assisted Reproductive Technology Writing Group paper.

    Science.gov (United States)

    Ginsburg, Elizabeth S; Baker, Valerie L; Racowsky, Catherine; Wantman, Ethan; Goldfarb, James; Stern, Judy E

    2011-10-01

    To comprehensively report Society for Assisted Reproductive Technology (SART) member program usage of preimplantation genetic testing (PGT), preimplantation genetic diagnosis (PGD) for diagnosis of specific conditions, and preimplantation genetic screening for aneuploidy (PGS). Retrospective study. United States SART cohort data. Women undergoing a PGT cycle in which at least one embryo underwent biopsy. PGT. PGT use, indications, and delivery rates. Of 190,260 fresh, nondonor assisted reproductive technology (ART) cycles reported to SART CORS in 2007-2008, 8,337 included PGT. Of 6,971 cycles with a defined indication, 1,382 cycles were for genetic diagnosis, 3,645 for aneuploidy screening (PGS), 527 for translocation, and 1,417 for elective sex election. Although the total number of fresh, autologous cycles increased by 3.6% from 2007 to 2008, the percentage of cycles with PGT decreased by 5.8% (4,293 in 2007 and 4,044 in 2008). As a percentage of fresh, nondonor ART cycles, use dropped from 4.6% (4,293/93,433) in 2007 to 4.2% (4,044/96,827) in 2008. The primary indication for PGT was PGS: cycles performed for this indication decreased (-8.0%). PGD use for single-gene defects (+3.2%), elective sex selection (+5.3%), and translocation analysis (+0.5%) increased. PGT usage varied significantly by geographical region. PGT usage in the United States decreased between 2007 and 2008 owing to a decrease in PGS. Use of elective sex selection increased. High transfer cancellation rates correlated with reduced live-birth rates for some PGT indications. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  17. Effects of stacked wedge pads and chains applied to the forefeet of Tennessee Walking Horses for a five-day period on behavioral and biochemical indicators of pain, stress, and inflammation.

    Science.gov (United States)

    Everett, James B; Schumacher, Jim; Doherty, Thomas J; Black, Randi A; Amelse, Lisa L; Krawczel, Peter; Coetzee, Johann F; Whitlock, Brian K

    2018-01-01

    OBJECTIVE To determine the effects of stacked wedge pads and chains applied to the forefeet of Tennessee Walking Horses on behavioral and biochemical indicators of pain, stress, and inflamation. ANIMALS 20 Tennessee Walking Horses. PROCEDURES Horses were randomly assigned to 2 treatment groups: keg shoes (control; n = 10) or stacked wedge pads and exercise with chains (10). Ten days before treatment application, an accelerometer was attached at the left metatarsus of each horse to record daily activity. Horses were exercised for 20 minutes daily, beginning on day -7. On day 0, exercise ceased, the forefeet were trimmed, and the assigned treatment was applied. From days 1 through 5, horses were exercised as before. Blood samples for measurement of plasma cortisol, substance P, and fibrinogen concentrations were collected on days -5, 1, and 5 before and after exercise and every 30 minutes thereafter for 6 hours. RESULTS No significant differences in plasma concentrations of cortisol, substance P, and fibrinogen were detected between groups. Although lying behaviors changed after shoes were applied, these behaviors did not differ significantly between groups. Shoeing appeared to have altered behavior to a greater extent than did the type of treatment applied. CONCLUSIONS AND CLINICAL RELEVANCE Application of stacked wedge pads and chains to the forefeet of horses for a 5-day period as performed in this study evoked no acute or subacute stress or nociceptive response as measured. Although these findings should not be extrapolated to the long-term use of such devices in Tennessee Walking Horses performing the running walk, the data should be considered when making evidence-based decisions relating to animal welfare and the use of stacked wedge pads and chains.

  18. Experience of more than 100 preimplantation genetic diagnosis cycles for monogenetic diseases using whole genome amplification and linkage analysis in a single centre.

    Science.gov (United States)

    Chow, Judy F C; Yeung, William S B; Lee, Vivian C Y; Lau, Estella Y L; Ho, P C; Ng, Ernest H Y

    2015-08-01

    To report the outcomes of more than 100 cycles of preimplantation genetic diagnosis for monogenetic diseases. Case series. Tertiary assisted reproductive centre in Hong Kong, where patients needed to pay for the cost of preimplantation genetic diagnosis on top of standard in-vitro fertilisation charges. Patients undergoing preimplantation genetic diagnosis for monogenetic diseases at the Centre of Assisted Reproduction and Embryology, Queen Mary Hospital-The University of Hong Kong between 1 August 2007 and 30 April 2014 were included. In-vitro fertilisation, intracytoplasmic sperm injection, embryo biopsy, and preimplantation genetic diagnosis. Ongoing pregnancy rate and implantation rate. Overall, 124 cycles of preimplantation genetic diagnosis were initiated in 76 patients, 101 cycles proceeded to preimplantation genetic diagnosis, and 92 cycles had embryo transfer. The ongoing pregnancy rate was 28.2% per initiated cycle and 38.0% per embryo transfer, giving an implantation rate of 35.2%. There were 16 frozen-thawed embryo transfer cycles in which, following preimplantation genetic diagnosis, cryopreserved embryos were replaced resulting in an ongoing pregnancy rate of 37.5% and implantation rate of 30.0%. The cumulative ongoing pregnancy rate was 33.1%. The most frequent indication for preimplantation genetic diagnosis was thalassaemia, followed by neurodegenerative disorder and cancer predisposition. There was no misdiagnosis. Preimplantation genetic diagnosis is a reliable method to prevent couples conceiving fetuses severely affected by known genetic disorders, with ongoing pregnancy and implantation rates similar to those for in-vitro fertilisation for routine infertility treatment.

  19. Next generation sequencing for preimplantation genetic testing of blastocysts aneuploidies in women of different ages

    Directory of Open Access Journals (Sweden)

    Krzysztof Lukaszuk

    2015-12-01

    Full Text Available Most of the current preimplantation genetic screening of aneuploidies tests are based on the low quality and low density comparative genomic hybridization arrays. The results are based on fewer than 2,700 probes. Our main outcome was the association of aneuploidy rates and the women’s age. Between August–December 2013, 198 blastocysts from women (mean age 36.3+-4.6 undergoing in vitro fertilization underwent routine trophectoderm biopsy. NGS was performed on Ion Torrent PGM (Life Technologies. The results were analyzed in five age groups ( 40. 85 blastocysts were normal according to NGS results. The results in the investigated groups were (% of normal blastocyst in each group: 40 (38.5%. Our study suggests that NGS PGD is applicable for routine preimplantation genetic testing. It allows also for easy customization of the procedure for each individual patient making personalized diagnostics a reality.

  20. Inverted light-sheet microscope for imaging mouse pre-implantation development.

    Science.gov (United States)

    Strnad, Petr; Gunther, Stefan; Reichmann, Judith; Krzic, Uros; Balazs, Balint; de Medeiros, Gustavo; Norlin, Nils; Hiiragi, Takashi; Hufnagel, Lars; Ellenberg, Jan

    2016-02-01

    Despite its importance for understanding human infertility and congenital diseases, early mammalian development has remained inaccessible to in toto imaging. We developed an inverted light-sheet microscope that enabled us to image mouse embryos from zygote to blastocyst, computationally track all cells and reconstruct a complete lineage tree of mouse pre-implantation development. We used this unique data set to show that the first cell fate specification occurs at the 16-cell stage.

  1. Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements.

    Science.gov (United States)

    Ramos, Laia; Daina, Gemma; Del Rey, Javier; Ribas-Maynou, Jordi; Fernández-Encinas, Alba; Martinez-Passarell, Olga; Boada, Montserrat; Benet, Jordi; Navarro, Joaquima

    2015-09-01

    To assess whether preimplantation genetic screening can successfully identify cytogenetically normal embryos in couples carrying balanced chromosome rearrangements in addition to increased sperm DNA fragmentation. Comprehensive preimplantation genetic screening was performed on three couples carrying chromosome rearrangements. Sperm DNA fragmentation was assessed for each patient. Academic center. One couple with the male partner carrying a chromosome 2 pericentric inversion and two couples with the male partners carrying a Robertsonian translocation (13:14 and 14:21, respectively). A single blastomere from each of the 18 cleavage-stage embryos obtained was analysed by metaphase comparative genomic hybridization. Single- and double-strand sperm DNA fragmentation was determined by the alkaline and neutral Comet assays. Single- and double-strand sperm DNA fragmentation values and incidence of chromosome imbalances in the blastomeres were analyzed. The obtained values of single-strand sperm DNA fragmentation were between 47% and 59%, and the double-strand sperm DNA fragmentation values were between 43% and 54%. No euploid embryos were observed in the couple showing the highest single-strand sperm DNA fragmentation. However, euploid embryos were observed in the other two couples: embryo transfer was performed, and pregnancy was achieved by the couple showing the lowest sperm DNA fragmentation values. Preimplantation genetic screening enables the detection of euploid embryos in couples affected by balanced chromosome rearrangements and increased sperm DNA fragmentation. Even though sperm DNA fragmentation may potentially have clinical consequences on fertility, comprehensive preimplantation genetic screening allows for the identification and transfer of euploid embryos. Copyright © 2015. Published by Elsevier Inc.

  2. [Advance in the methods of preimplantation genetic diagnosis for single gene diseases].

    Science.gov (United States)

    Ren, Yixin; Qiao, Jie; Yan, Liying

    2017-06-10

    More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis (PGD) is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.

  3. Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism

    OpenAIRE

    Bayefsky, Michelle J

    2017-01-01

    Unlike many European nations, the USA has no regulations concerning the use of preimplantation genetic diagnosis (PGD), a technique employed during some fertility treatments to select embryos based on their genes. As such, PGD can and is used for a variety of controversial purposes, including sex selection, selection for children with disabilities such as deafness, and selection for ‘saviour siblings’ who can serve as tissue donors for sick relatives. The lack of regulation, which is due to p...

  4. Selection of reference genes for quantitative real-time PCR in bovine preimplantation embryos

    Directory of Open Access Journals (Sweden)

    Van Zeveren Alex

    2005-12-01

    Full Text Available Abstract Background Real-time quantitative PCR is a sensitive and very efficient technique to examine gene transcription patterns in preimplantation embryos, in order to gain information about embryo development and to optimize assisted reproductive technologies. Critical to the succesful application of real-time PCR is careful assay design, reaction optimization and validation to maximize sensitivity and accuracy. In most of the studies published GAPD, ACTB or 18S rRNA have been used as a single reference gene without prior verification of their expression stability. Normalization of the data using unstable controls can result in erroneous conclusions, especially when only one reference gene is used. Results In this study the transcription levels of 8 commonly used reference genes (ACTB, GAPD, Histone H2A, TBP, HPRT1, SDHA, YWHAZ and 18S rRNA were determined at different preimplantation stages (2-cell, 8-cell, blastocyst and hatched blastocyst in order to select the most stable genes to normalize quantitative data within different preimplantation embryo stages. Conclusion Using the geNorm application YWHAZ, GAPD and SDHA were found to be the most stable genes across the examined embryonic stages, while the commonly used ACTB was shown to be highly regulated. We recommend the use of the geometric mean of those 3 reference genes as an accurate normalization factor, which allows small expression differences to be reliably measured.

  5. Melatonin protect the development of preimplantation mouse embryos from sodium fluoride-induced oxidative injury.

    Science.gov (United States)

    Zhao, Jiamin; Fu, Beibei; Peng, Wei; Mao, Tingchao; Wu, Haibo; Zhang, Yong

    2017-09-01

    Recently study shows that melatonin can protect embryos from the culture environment oxidative stress. However, the protective effect of melatonin on the mouse development of preimplantation embryos under sodium fluoride (NaF) induced oxidative stress is still unclear. Here, we showed that exposure to NaF significantly increased the reactive oxygen species (ROS) level, decreased the blastocyst formation rates, and increased the fragmentation, apoptosis and retardation of blastocysts in the development of mouse preimplantation embryos. However, the protective of melatonin remarkable increased the of blastocyst formation rates, maintained mitochondrial function and total antioxidant capacity by clearing ROS. Importantly the data showed that melatonin improved the activity of enzymatic antioxidants, including glutathione(GSH), superoxide dismutase(SOD), and malonaldehyde (MDA), and increased the expression levels of antioxidative genes. Taken together, our results indicate that melatonin prevent NaF-induced oxidative damage to mouse preimplantation embryo through down regulation of ROS level, stabilization of mitochondrial function and modulation of the activity of antioxidases and antioxidant genes. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Frequency of chromosomal aneuploidy in high quality embryos from young couples using preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Farzaneh Fesahat

    2017-09-01

    Full Text Available Background: Selection of the best embryo for transfer is very important in assisted reproductive technology (ART. Using morphological assessment for this selection demonstrated that the correlation between embryo morphology and implantation potential is relatively weak. On the other hand, aneuploidy is a key genetic factor that can influence human reproductive success in ART. Objective: The aim of this lab trial study was to evaluate the incidence of aneuploidies in five chromosomes in the morphologically high-quality embryos from young patients undergoing ART for sex selection. Materials and Methods: A total of 97 high quality embryos from 23 women at the age of 37or younger years that had previously undergone preimplantation genetic screening for sex selection were included in this study. After washing, the slides of blastomeres from embryos of patients were reanalyzed by fluorescence in-situ hybridization for chromosomes 13, 18 and 21. Results: There was a significant rate of aneuploidy determination in the embryos using preimplantation genetic screening for both sex and three evaluated autosomal chromosomes compared to preimplantation genetic screening for only sex chromosomes (62.9% vs. 24.7%, p=0.000. The most frequent detected chromosomal aneuploidy was trisomy or monosomy of chromosome 13. Conclusion: There is considerable numbers of chromosomal abnormalities in embryos generated in vitro which cause in vitro fertilization failure and it seems that morphological characterization of embryos is not a suitable method for choosing the embryos without these abnormalities

  7. [BETWEEN USAGE AND POLEMIC, AN ARGUMENT IN FAVOUR OF CLARIFYING THE TERMINOLOGY FOR PREIMPLANTATION GENETIC DIAGNOSIS].

    Science.gov (United States)

    Côté, Stéphanie; Ravitsky, Vardit; Hamet, Pavel; Bouffard, Chantal

    2015-12-01

    Over 30 years ago, preimplantation genetic diagnosis (PGD) was developed to help couples at risk of transmitting a serious genetic disease to their offspring. Today, the range of medical and non-medical uses of PGD has expanded considerably and some raise much controversy. This is the case, for example, with In-Vitro Fertilization to select embryos as 'saviour siblings' or to screen for susceptibility and predisposition to late onset diseases or conditions of variable penetrance. The situation is even more problematic in the case of sex selection or selection of traits that are culturally valued or discredited (such as deafness, behavioral traits, or height). The debate surrounding PGD has been employing terms to describe these particular uses that have contributed to a focus on the negative effects, thus preventing a distinction between the abuses and the benefits of this reproductive technology. In this context, this paper proposes a terminological clarification that would allow distinguishing medical and non-medical use and, therefore, the issues relevant to each. A more accurate and less generic nomenclature could prevent a conflation of different levels of ethical, clinical and social issues under the single term 'PGD'. For the vast majority of medical uses, we propose to keep: 'preimplantation genetic diagnosis (PGD)', which emphasizes that it is a genetic diagnosis. For non-medical uses, we suggest: 'preimplantation genetic trait selection (PGTS)'.

  8. Reduction of transgenerational radiation induced genetic damages observed as numerical chromosomal abnormalities in preimplantation embryos by vitamin E

    International Nuclear Information System (INIS)

    Salimi, M.; Mozdarani, H.

    2008-01-01

    To study the effects of parental gamma irradiation (4 Gy) of NMRI (Naval Medical Research Institute) mice on the numerical chromosome abnormalities in subsequent preimplantation embryos in the presence of vitamin E (200 IU/kg), super-ovulated irradiated females were mated with irradiated males at weekly intervals in successive 6 weekly periods. About 68 h post coitus, 8-cell embryos were fixed on slides using standard methods in order to screen for abnormalities in chromosome number. In embryos generated by irradiated mice, the frequency of aneuploids dramatically increased compared to control unirradiated groups (p < 0.001), while no significant difference were observed within irradiated groups mated at weekly interval. Administration of vitamin E significantly decreased chromosomal aberrations in all groups (p < 0.05). Data indicate that gamma irradiation affects spermatogenesis and oogenesis and causes DNA alterations that may lead to chromosome abnormalities in subsequent embryos. Vitamin E effectively reduced the frequency of abnormalities. The way vitamin E reduces genotoxic effects of radiation might be via radical scavenging or antioxidative mechanism. (authors)

  9. Comparison between fluorescent in-situ hybridisation and array comparative genomic hybridisation in preimplantation genetic diagnosis in translocation carriers.

    Science.gov (United States)

    Lee, Vivian C Y; Chow, Judy F C; Lau, Estella Y L; Yeung, William S B; Ho, P C; Ng, Ernest H Y

    2015-02-01

    To compare the pregnancy outcome of the fluorescent in-situ hybridisation and array comparative genomic hybridisation in preimplantation genetic diagnosis of translocation carriers. Historical cohort. A teaching hospital in Hong Kong. All preimplantation genetic diagnosis treatment cycles performed for translocation carriers from 2001 to 2013. Overall, 101 treatment cycles for preimplantation genetic diagnosis in translocation were included: 77 cycles for reciprocal translocation and 24 cycles for Robertsonian translocation. Fluorescent in-situ hybridisation and array comparative genomic hybridisation were used in 78 and 11 cycles, respectively. The ongoing pregnancy rate per initiated cycle after array comparative genomic hybridisation was significantly higher than that after fluorescent in-situ hybridisation in all translocation carriers (36.4% vs 9.0%; P=0.010). The miscarriage rate was comparable with both techniques. The testing method (array comparative genomic hybridisation or fluorescent in-situ hybridisation) was the only significant factor affecting the ongoing pregnancy rate after controlling for the women's age, type of translocation, and clinical information of the preimplantation genetic diagnosis cycles by logistic regression (odds ratio=1.875; P=0.023; 95% confidence interval, 1.090-3.226). This local retrospective study confirmed that comparative genomic hybridisation is associated with significantly higher pregnancy rates versus fluorescent in-situ hybridisation in translocation carriers. Array comparative genomic hybridisation should be the technique of choice in preimplantation genetic diagnosis cycles in translocation carriers.

  10. The Construction of cDNA Libraries from Human Single Preimplantation Embryos and Their Use in the Study of Gene Expression During Development

    OpenAIRE

    Adjaye, James; Daniels, Rob; Monk, Marilyn

    1998-01-01

    Purpose:The construction and application of polymerase chain reaction (PCR)-based cDNA libraries from unfertilized human oocytes and single preimplantation-stage embryos are described. The purpose of these studies is to provide a readily available resource for the study of gene expression during human preimplantation development.

  11. Sexing bovine pre-implantation embryos using the polymerase ...

    African Journals Online (AJOL)

    The paper aims to present a bovine model for human embryo sexing. Cows were super-ovulated, artificially inseminated and embryos were recovered 7 days later. Embryo biopsy was performed; DNA was extracted from blastomeres and amplified using bovine-specific and bovine-Y-chromosomespecific primers, followed ...

  12. Dinosaur Day!

    Science.gov (United States)

    Nakamura, Sandra; Baptiste, H. Prentice

    2006-01-01

    In this article, the authors describe how they capitalized on their first-grade students' love of dinosaurs by hosting a fun-filled Dinosaur Day in their classroom. On Dinosaur Day, students rotated through four dinosaur-related learning stations that integrated science content with art, language arts, math, and history in a fun and time-efficient…

  13. Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos.

    Science.gov (United States)

    McCoy, Rajiv C; Newnham, Louise J; Ottolini, Christian S; Hoffmann, Eva R; Chatzimeletiou, Katerina; Cornejo, Omar E; Zhan, Qiansheng; Zaninovic, Nikica; Rosenwaks, Zev; Petrov, Dmitri A; Demko, Zachary P; Sigurjonsson, Styrmir; Handyside, Alan H

    2018-04-24

    Aneuploidy is prevalent in human embryos and is the leading cause of pregnancy loss. Many aneuploidies arise during oogenesis, increasing with maternal age. Superimposed on these meiotic aneuploidies are frequent errors occurring during early mitotic divisions, contributing to widespread chromosomal mosaicism. Here we reanalyzed a published dataset comprising preimplantation genetic testing for aneuploidy in 24,653 blastomere biopsies from day-3 cleavage-stage embryos, as well as 17,051 trophectoderm biopsies from day-5 blastocysts. We focused on complex abnormalities that affected multiple chromosomes simultaneously, seeking insights into their formation. In addition to well-described patterns such as triploidy and haploidy, we identified 4.7% of blastomeres possessing characteristic hypodiploid karyotypes. We inferred this signature to have arisen from tripolar chromosome segregation in normally-fertilized diploid zygotes or their descendant diploid cells. This could occur via segregation on a tripolar mitotic spindle or by rapid sequential bipolar mitoses without an intervening S-phase. Both models are consistent with time-lapse data from an intersecting set of 77 cleavage-stage embryos, which were enriched for the tripolar signature among embryos exhibiting abnormal cleavage. The tripolar signature was strongly associated with common maternal genetic variants spanning the centrosomal regulator PLK4, driving the association we previously reported with overall mitotic errors. Our findings are consistent with the known capacity of PLK4 to induce tripolar mitosis or precocious M-phase upon dysregulation. Together, our data support tripolar chromosome segregation as a key mechanism generating complex aneuploidy in cleavage-stage embryos and implicate maternal genotype at a quantitative trait locus spanning PLK4 as a factor influencing its occurrence.

  14. Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage.

    Science.gov (United States)

    Christodoulou, Christodoulos; Dheedene, Annelies; Heindryckx, Björn; van Nieuwerburgh, Filip; Deforce, Dieter; De Sutter, Petra; Menten, Björn; Van den Abbeel, Etienne

    2017-01-01

    To establish the value of array comparative genomic hybridization (CGH) for preimplantation genetic diagnosis (PGD) in embryos of translocation carriers in combination with vitrification and frozen embryo transfer in nonstimulated cycles. Retrospective data analysis study. Academic centers for reproductive medicine and genetics. Thirty-four couples undergoing PGD for chromosomal rearrangements from October 2013 to December 2015. Trophectoderm biopsy at day 5 or day 6 of embryo development and subsequently whole genome amplification and array CGH were performed. This approach revealed a high occurrence of aneuploidies and structural rearrangements unrelated to the parental rearrangement. Nevertheless, we observed a benefit in pregnancy rates of these couples. We detected chromosomal abnormalities in 133/207 embryos (64.2% of successfully amplified), and 74 showed a normal microarray profile (35.7%). In 48 of the 133 abnormal embryos (36.1%), an unbalanced rearrangement originating from the parental translocation was identified. Interestingly, 34.6% of the abnormal embryos (46/133) harbored chromosome rearrangements that were not directly linked to the parental translocation in question. We also detected a combination of unbalanced parental-derived rearrangements and aneuploidies in 27 of the 133 abnormal embryos (20.3%). The use of trophectoderm biopsy at the blastocyst stage is less detrimental to the survival of the embryo and leads to a more reliable estimate of the genomic content of the embryo than cleavage-stage biopsy. In this small cohort PGD study, we describe the successful implementation of array CGH analysis of blastocysts in patients with a chromosomal rearrangement to identify euploid embryos for transfer. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  15. Perturbation of the Developmental Potential of Preimplantation Mouse Embryos by Hydroxyurea

    Directory of Open Access Journals (Sweden)

    Edward R. Hills

    2010-04-01

    Full Text Available Women are advised not to attempt pregnancy while on hydroxyurea (HU due to the teratogenic effects of this agent, based on results obtained from animal studies. Several case reports suggest that HU may have minimal or no teratogenic effects on the developing human fetus. Fourteen cases of HU therapy in pregnant patients diagnosed with acute or chronic myelogenous leukemia, primary thrombocythemia, or sickle cell disease (SCD have been reported. Three pregnancies were terminated by elective abortion; 1 woman developed eclampsia and delivered a phenotypically normal stillborn infant. All other patients delivered live, healthy infants without congenital anomalies. We contend that case studies such as these have too few patients and cannot effectively address the adverse effect of HU on preimplantation embryo or fetuses. The objective of this study was to assess the risks associated with a clinically relevant dose of HU used for the treatment of SCD, on ovulation rate and embryo development, using adult C57BL/6J female mice as a model. In Experiment 1, adult female mice were randomly assigned to a treatment or a control group (N = 20/group. Treatment consisted of oral HU (30 mg/kg for 28 days; while control mice received saline (HU vehicle. Five days to the cessation of HU dosing, all mice were subjected to folliculogenesis induction with pregnant mare serum gonadotropin (PMSG. Five mice/group were anesthetized at 48 hours post PMSG to facilitate blood collection via cardiac puncture for estradiol-17β (E2 measurement by RIA. Ovulation was induced in the remaining mice at 48 hours post PMSG with human chorionic gonadotropin (hCG and immediately caged with adult males for mating. Five plugged female mice/group were sacrificed for the determination of ovulation rate. The remaining mated mice were sacrificed about 26 hours post hCG, ovaries excised and weighed and embryos harvested and cultured in Whitten’s medium (WM supplemented with CZBt. In

  16. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Directory of Open Access Journals (Sweden)

    Tanya Milachich

    2014-01-01

    Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

  17. Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification

    Science.gov (United States)

    Janson, Marleen M.; Roesler, Mark R.; Avner, Ellis D.; Strawn, Estil Y.; Bick, David P.

    2010-01-01

    Purpose To develop a reliable preimplantation genetic diagnosis protocol for couples who both carry a mutant PKHD1 gene wishing to conceive children unaffected with autosomal recessive polycystic kidney disease (ARPKD). Methods Development of a unique protocol for preimplantation genetic testing using whole genome amplification of single blastomeres by multiple displacement amplification (MDA), and haplotype analysis with novel short tandem repeat (STR) markers from the PKHD1 gene and flanking sequences, and a case report of successful utilization of the protocol followed by successful IVF resulting in the birth of an infant unaffected with ARPKD. Results We have developed 20 polymorphic STR markers suitable for linkage analysis of ARPKD. These linked STR markers have enabled unambiguous identification of the PKHD1 haplotypes of embryos produced by at-risk couples. Conclusions We have developed a reliable protocol for preimplantation genetic diagnosis of ARPKD using single-cell MDA products for PKHD1 haplotyping. PMID:20490649

  18. New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

    Science.gov (United States)

    2014-01-01

    The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future. PMID:24783200

  19. First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.

    Science.gov (United States)

    Rechitsky, Svetlana; Pakhalchuk, Tatiana; San Ramos, Geraldine; Goodman, Adam; Zlatopolsky, Zev; Kuliev, Anver

    2015-02-01

    To study the feasibility, accuracy, and reproductive outcome of 24-chromosome aneuploidy testing (24-AT), combined with preimplantation genetic diagnosis (PGD) for single-gene disorders (SGDs) or human leukocyte antigen (HLA) typing in the same biopsy sample. Retrospective study. Preimplantation genetic diagnosis center. A total of 238 PGD patients, average age 36.8 years, for whom 317 combined PGD cycles were performed, involving 105 different conditions, with or without HLA typing. Whole-genome amplification product, obtained in 24-AT, was used for PGD and/or HLA typing in the same blastomere or blastocyst biopsy samples. Proportion of the embryos suitable for transfer detected in these blastomere or blastocyst samples, and the resulting pregnancy and spontaneous abortion rates. Embryos suitable for transfer were detected in 42% blastocyst and 25.1% blastomere samples, with a total of 280 unaffected, HLA-matched euploid embryos detected for transfer in 212 cycles (1.3 embryos per transfer), resulting in 145 (68.4%) unaffected pregnancies and birth of 149 healthy, HLA-matched children. This outcome is significantly different from that of our 2,064 PGD cycle series without concomitant 24-AT, including improved pregnancy (68.4% vs. 45.4%) and 3-fold spontaneous abortion reduction (5.5% vs. 15%) rates. The introduced combined approach is a potential universal PGD test, which in addition to achieving extremely high diagnostic accuracy, significantly improves reproductive outcomes of PGD for SGDs and HLA typing in patients of advanced reproductive age. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  20. Transcriptome analyses of rhesus monkey preimplantation embryos reveal a reduced capacity for DNA double-strand break repair in primate oocytes and early embryos

    Science.gov (United States)

    Wang, Xinyi; Liu, Denghui; He, Dajian; Suo, Shengbao; Xia, Xian; He, Xiechao; Han, Jing-Dong J.; Zheng, Ping

    2017-01-01

    Preimplantation embryogenesis encompasses several critical events including genome reprogramming, zygotic genome activation (ZGA), and cell-fate commitment. The molecular basis of these processes remains obscure in primates in which there is a high rate of embryo wastage. Thus, understanding the factors involved in genome reprogramming and ZGA might help reproductive success during this susceptible period of early development and generate induced pluripotent stem cells with greater efficiency. Moreover, explaining the molecular basis responsible for embryo wastage in primates will greatly expand our knowledge of species evolution. By using RNA-seq in single and pooled oocytes and embryos, we defined the transcriptome throughout preimplantation development in rhesus monkey. In comparison to archival human and mouse data, we found that the transcriptome dynamics of monkey oocytes and embryos were very similar to those of human but very different from those of mouse. We identified several classes of maternal and zygotic genes, whose expression peaks were highly correlated with the time frames of genome reprogramming, ZGA, and cell-fate commitment, respectively. Importantly, comparison of the ZGA-related network modules among the three species revealed less robust surveillance of genomic instability in primate oocytes and embryos than in rodents, particularly in the pathways of DNA damage signaling and homology-directed DNA double-strand break repair. This study highlights the utility of monkey models to better understand the molecular basis for genome reprogramming, ZGA, and genomic stability surveillance in human early embryogenesis and may provide insights for improved homologous recombination-mediated gene editing in monkey. PMID:28223401

  1. Gonadotropin Releasing Hormone Agonists or Antagonists for Preimplantation Genetic Diagnosis (PGD)? A Prospective Randomised Trial.

    Science.gov (United States)

    Verpoest, Willem; De Vos, Anick; De Rycke, Martine; Parikh, Shruti; Staessen, Catherine; Tournaye, Herman; De Vos, Michel; Vloeberghs, Veerle; Blockeel, Christophe

    2017-11-10

    The use of GnRH analogue medication is essential in reproductive medicine to avoid premature ovulation by pituitary suppression for the duration of ovarian stimulation by gonadotrophins. The type of pituitary suppression by either GnRH agonist analogues versus GnRH antagonist analogues may result in different embryological hence clinical results. Preimplantation genetic diagnosis is a subtype of IVF in which embryos are created for genetic diagnosis of hereditary disorders in order to avoid genetically affected children. Embryological quality hence ovarian stimulation in preimplantation genetic diagnosis is crucial as genetic selection will reduce the number of available embryos to a fraction of the total. The aim of this study was to assess the efficiency of GnRH antagonist versus GnRH agonist treatment for pituitary suppression in ovarian stimulation for PGD, by proxy of number and quality of embryos at cleavage stage available for biopsy. We conducted a prospective randomised controlled trial comparing pituitary suppression by GnRH antagonist versus GnRH agonist in ovarian stimulation for PGD. The primary outcome measure was the number of embryos of sufficient quality for biopsy at cleavage stage. Secondary outcome parameters were the number of blastocysts available of top quality, and clinical pregnancy rate. There was no difference in number of oocytes retrieved, embryos at cleavage stage available for biopsy or embryo quality. The clinical pregnancy rate was higher in the GnRH agonist group; however the sample size was insufficient to allow conclusions. The use of GnRH agonist versus antagonist treatment does not result in differences in a number of oocytes, embryos or embryo quality in ovarian stimulation for preimplantation genetic diagnosis. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  2. Ouabain-sensitive Rb+ uptake in mouse eggs and preimplantation conceptuses

    International Nuclear Information System (INIS)

    Van Winkle, L.J.; Campione, A.L.

    1991-01-01

    The results of histochemical and immunocytochemical studies have been used elsewhere to support the hypothesis that Na+/K(+)-ATPase expression is initiated or increases dramatically in preimplantation mouse conceptuses just before they begin to cavitate. Moreover, localization of the enzyme in the inner membrane of the mural trophoblast is thought to be involved directly in formation and maintenance of the blastocyst cavity. Presumably, Na+/K(+)-ATPase extrudes the cation, Na+, and therefore water into the cavity. The cation transporting activity of the enzyme can be determined by measuring ouabain-sensitive Rb+ uptake by cells. Therefore, we measured Rb+ uptake in mouse eggs and preimplantation conceptuses at various stages of development. 86Rb+ uptake by conceptuses increased linearly with time for at least 60 min in medium containing 0.7 mM total Rb+ plus K+ in the absence or presence of 1.0 mM ouabain, and ouabain inhibited more than 70% of 86Rb+ uptake. The ouabain concentration at 1/2 of maximum inhibition of the ouabain-sensitive component of 86Rb+ uptake was about 10-20 microM in eggs and conceptuses at all stages of preimplantation development. Moreover, ouabain-sensitive Rb+ uptake had a twofold higher Vmax value in blastocysts than in eggs or conceptuses at earlier stages of development (i.e., approximately 173 vs 70-100 fmole.conceptus-1.min-1), although the total cell surface area also was probably about two times greater in blastocysts than in eggs or other conceptuses. Ouabain-sensitive Rb+ transport in eggs and conceptuses may have occurred via a single ouabain-sensitive Rb+ transporter with a Hill coefficient of 1.5-1.8 (Hill plots). When it was assumed that the Hill coefficient had a value of 2.0, however, eggs and conceptuses appeared to contain at least two forms of Na+/K(+)-ATPase activity

  3. Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges.

    Science.gov (United States)

    Hens, Kristien; Dondorp, Wybo; Handyside, Alan H; Harper, Joyce; Newson, Ainsley J; Pennings, Guido; Rehmann-Sutter, Christoph; de Wert, Guido

    2013-01-01

    Genetic testing of preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Microarray technology is being introduced in both these contexts, and whole genome sequencing of blastomeres is also expeted to become possible soon. The amount of extra information such tests will yield may prove to be beneficial for embryo selection, will also raise various ethical issues. We present an overview of the developments and an agenda-setting exploration of the ethical issues. The paper is a joint endeavour by the presenters at an explorative 'campus meeting' organized by the European Society of Human Reproduction and Embryology in cooperation with the department of Health, Ethics & Society of the Maastricht University (The Netherlands). The increasing amount and detail of information that new screening techniques such as microarrays and whole genome sequencing offer does not automatically coincide with an increasing understanding of the prospects of an embryo. From a technical point of view, the future of comprehensive embryo testing may go together with developments in preconception carrier screening. From an ethical point of view, the increasing complexity and amount of information yielded by comprehensive testing techniques will lead to challenges to the principle of reproductive autonomy and the right of the child to an open future, and may imply a possible larger responsibility of the clinician towards the welfare of the future child. Combinations of preconception carrier testing and embryo testing may solve some of these ethical questions but could introduce others. As comprehensive testing techniques are entering the IVF clinic, there is a need for a thorough rethinking of traditional ethical paradigms regarding medically assisted reproduction.

  4. Preimplantation genetic diagnosis (PGD) for HLA typing: bases for setting up an open international collaboration when PGD is not available.

    Science.gov (United States)

    Bellavia, Marina; Von Der Weid, Nicolas; Peddes, Christina; Jacquemont, Sebastien; Liebaers, Inge; Hohlfeld, Patrick; Wunder-Galié, Dorothea; de Ziegler, Dominique

    2010-08-01

    In severe forms of Diamond-Blackfan anemia, preimplantation genetic diagnosis (PGD) of histocompatibility leukocyte antigen-compatible embryos for enabling the next sibling in the family to be a stem-cell transplantation donor constitutes the sole lasting cure capable of terminating the enduring need for iterative transfusions. We report here an open collaboration between two renowned institutions to provide a family desiring this treatment even though they resided where the preimplantation genetic diagnosis procedure is banned. Copyright (c) 2010 American Society for Reproductive Medicine. All rights reserved.

  5. Expression of the CTCF gene in bovine oocytes and preimplantation embryos

    Directory of Open Access Journals (Sweden)

    Álvaro F.L. Rios

    2007-01-01

    Full Text Available The CCCTC - binding factor (CTCF is a protein involved in repression, activation, hormone-inducible gene silencing, functional reading of imprinted genes and X-chromosome inactivation. We analyzed CTCF gene expression in bovine peripheral blood, oocytes and in different cellular stages (2-4 cells, 8-16 cells, 16-32 cells, morulae, and blastocysts of in vitro fertilized embryos. This is the first report of CTCF expression in oocytes and preimplantation bovine embryos and has implications for the production of embryonic stem cells and the development of novel medical technologies for humans.

  6. Amorphous clusters in Co implanted ZnO induced by boron pre-implantation

    Energy Technology Data Exchange (ETDEWEB)

    Potzger, K.; Shalimov, A.; Zhou, S.; Schmidt, H.; Mucklich, A.; Helm, M.; Fassbender, J.; Liberati, M.; Arenholz, E.

    2009-02-09

    We demonstrate the formation of superparamagnetic/ferromagnetic regions within ZnO(0001) single crystals sequently implanted with B and Co. While the pre-implantation with B plays a minor role for the electrical transport properties, its presence leads to the formation of amorphous phases. Moreover, B acts strongly reducing on the implanted Co. Thus, the origin of the ferromagnetic ordering in local clusters with large Co concentration is itinerant d-electrons as in the case of metallic Co. The metallic amorphous phases are non-detectable by common X-ray diffraction.

  7. Cell membrane and cell junctions in differentiation of preimplanted mouse embryos.

    Science.gov (United States)

    Izquierdo, L; Fernández, S; López, T

    1976-12-01

    Cell membrane and cell junctions in differentiation of preimplanted mouse embryos, (membrana celular y uniones celulares en la diferenciación del embrión de ratón antes de la implantación). Arch. Biol. Med. Exper. 10: 130-134, 1976. The development of cell junctions that seal the peripheral blastomeres could be a decisive step in the differentiation of morulae into blastocysts. The appearance of these junctions is studied by electron microscopy of late morulae and initial blastocysts. Zonulae occludentes as well as impermeability to lanthanum emulsion precedes the appearance of the blastocel and hence might be considered as one of its necessary causes.

  8. Day-to-day changes in ionospheric electron content

    International Nuclear Information System (INIS)

    Tyagi, T.R.

    1978-01-01

    Large day-to-day variations have been observed in the ionospheric electron content or the so-called Faraday content derived from ATS-6 measurements at Gauhati (26.15 deg N, 91.75 deg E) for the period November 1975 to July 1976. The changes occur in the form of single-day abnormality, alternate day-to-day fluctuations and long-term periodic fluctuations with a periodicity of about 45 days. In all the cases the fluctuations are as large as plus or minus 40% from the average level. These changes are not correlated with solar or magnetic activity

  9. Depression, pregnancy-related anxiety and parental-antenatal attachment in couples using preimplantation genetic diagnosis.

    Science.gov (United States)

    Winter, C; Van Acker, F; Bonduelle, M; Van Berkel, K; Belva, F; Liebaers, I; Nekkebroeck, J

    2016-06-01

    Do preimplantation genetic diagnosis (PGD) couples experience higher levels of stress during pregnancy and the perinatal period compared with couples who conceive spontaneously (SC) or with ICSI? PGD couples did not experience more psychological stress during pregnancy and beyond than ICSI or SC couples. Previous studies have shown that assisted reproduction technology (ART) couples are more prone to pregnancy-related anxieties than SC couples, but display depressed feelings to an equal or lesser extent. However, only one study has focused on a female PGD sample, which may be a more vulnerable group than other ART groups, due to the potentially complex hereditary background, adverse childhood experiences and losses. In that study, PGD women experienced a reduction in state anxiety, and maternal-antenatal attachment did not differ from normative data. Unfortunately, no data exist on pregnancy-related anxiety, depression and parental-antenatal attachment. Valuable information from both parents (e.g.: couples) is also lacking. For this longitudinal prospective study questionnaire, data from 185 women and 157 men (157 couples) were collected between February 2012 until April 2014. Data were analysed using multilevel analysis. The couples conceiving after PGD, ICSI or SC were followed from the first trimester of the pregnancy until the third month post-partum. A total of 60 PGD, 58 ICSI and 69 SC couples were initially recruited by various departments of Universitair Ziekenhuis Brussel (UZ Brussel). At each trimester (T1: 12-14 weeks, T2: 20-22 weeks, T3: 30-32 weeks) of pregnancy, depression (EPDS), pregnancy-related anxieties (PRAQ) and parental-antenatal attachment (M/PAAS) were recorded. At T4 (3 months post-partum), depression (EPDS) was assessed again. In the first trimester (T1) broad socio-demographic data and at T4 perinatal health data of both mother and child were recorded. Differences between conception groups over time were analysed using multilevel

  10. Effect of the Ethanolic Extract of Salvia officinalis on Ovarian Angiogenesis in Mice at Preimplantation: A Morphological and Molecular Analysis

    Directory of Open Access Journals (Sweden)

    Nasim Beigi Boroujeni

    2017-02-01

    Full Text Available Background Salvia officinalis is a phytoestrogen, which is used to reduce clinical signs of pregnancy and improve the female infertility in herbal medicine treatment. The effect of S. officinalis on ovarian angiogenesis at the preimplantation time is unknown. Objectives This research was a histomorphometric and quantitative real-time study on angiogenic activity in the ovarian tissue in mice after exposure to S. officinalis at preimplantaion. Methods The extract of S. officinalis leaves, which was analyzed by phytochemical methods, administered at a dose of 100 mg/kg daily for 14 days to female mice. Then, pseudopregnancy was induced and ovarian tissue samples were removed for histological and molecular assessment. Results Data analysis on the space-solid phase micro extraction/gas chromatography-mass spectrometry demonstrated α-thujone (33.90%, camphor (19.34%, cineole (11.01% and ß-thujone (9.48% were the dominating compounds in the leaves of S. officinalis. Data analysis on histomorphometric parameters showed a significant difference in the vascular parameters between the test and control groups. Furthermore, gene expression analysis implied an increased level of the vascular endothelial growth factor (VEGF (3.175 and was also associated with an increase in the level of Kinase insert domain protein receptor (KDR/Flk gene expression (3.556 and FMS-like tyrosine kinase (Flt gene expression (3.437 in the test group compared to the control group. Conclusions Increased ovarian angiogenesis after exposure to S. officinalis may induce vascular permeability and finally contribute to a variety of disorders including clinical signs similar to the ovarian hyperstimulation syndrome.

  11. Radiochemistry days

    International Nuclear Information System (INIS)

    1998-09-01

    This document provides the 44 papers (transparencies used during the presentations and posters) presented at the Radiochemistry Days, held September 3-4, 1998 in Nantes, France. The main studied topics were problematic questions concerning the nuclear fuel cycle and in particular the management, storage of radioactive wastes and the environmental impact. (O.M.)

  12. Single versus dual renal transplantation from donors with significant arteriosclerosis on pre-implant biopsy.

    Science.gov (United States)

    Kayler, Liise K; Mohanka, Ravi; Basu, Amit; Shapiro, Ron; Randhawa, Parmjeet S

    2009-01-01

    Transplantation of kidneys from donor with arteriosclerosis seen on pre-implantation biopsy has not been well studied. We retrospectively evaluated 20 dual kidney transplant (DKT) and 28 single (SKT) kidney transplant recipients with >or=12 months follow-up from donors with moderate arteriosclerosis (>or=25% luminal diameter narrowing). Death censored graft survival was 100% and 79%, respectively (p = 0.0339). DKT recipients had significantly lower mean creatinine levels at one, three, six, and nine months and spent somewhat less time on the waiting list (181 +/- 160 vs. 318 +/- 306 d, p = 0.1429). DKT patients received kidneys from significantly older donors (64 +/- 7 vs. 54 +/- 11 yr; p = 0.0012), proportionately more expanded criteria donors (95% vs. 54%; p = 0.0029), and more donors with hypertension (81% vs. 48%, p = 0.0344) and death related to cerebrovascular accident (100% vs. 71%, p = 0.0143); however, more DKT kidneys underwent machine perfusion (95% vs. 57%, p = 0.0068). Baseline recipient variables were comparable between the two groups including age, race, gender, retransplantation, and HLA mismatch. Pre-implant biopsy was notable for similar frequencies of moderate interstitial fibrosis (10% vs. 14%, respectively) and glomerulosclerosis. Among recipients of deceased-donor kidneys with >25% arteriosclerosis, short-term outcomes after DKT were superior to that of SKT grafts. This approach may help to expand the donor-organ pool while optimizing outcomes.

  13. A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis.

    Science.gov (United States)

    Davis, Lynn B; Champion, Sara J; Fair, Steve O; Baker, Valerie L; Garber, Alan M

    2010-04-01

    To perform a cost-benefit analysis of preimplantation genetic diagnosis (PGD) for carrier couples of cystic fibrosis (CF) compared with the alternative of natural conception (NC) followed by prenatal testing and termination of affected pregnancies. Cost-benefit analysis using a decision analytic model. Outpatient reproductive health practices. A simulated cohort of 1,000 female patients. We calculated the net benefit of giving birth to a child as the present value of lifetime earnings minus lifetime medical costs. Net benefits in dollars. When used for women younger than 35 years of age, the net benefit of PGD over NC was $182,000 ($715,000 vs. $532,000, respectively). For women aged 35-40 years, the net benefit of PGD over NC was $114,000 ($634,000 vs. $520,000, respectively). For women older than 40 years, however, the net benefit of PGD over NC was -$148,000 ($302,000 vs. $450,000, respectively). Preimplantation genetic diagnosis provides net economic benefits when used by carrier couples of CF. Although there is an upper limit of maternal age at which economic benefit can be demonstrated, carrier couples of CF should be offered PGD for prevention of an affected child. Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  14. Is preimplantation genetic diagnosis the ideal embryo selection method in aneuploidy screening?

    Directory of Open Access Journals (Sweden)

    Levent Sahin

    2014-10-01

    Full Text Available To select cytogenetically normal embryos, preimplantation genetic diagnosis (PGD aneuploidy screening (AS is used in numerous centers around the world. Chromosomal abnormalities lead to developmental problems, implantation failure, and early abortion of embryos. The usefulness of PGD in identifying single-gene diseases, human leukocyte antigen typing, X-linked diseases, and specific genetic diseases is well-known. In this review, preimplantation embryo genetics, PGD research studies, and the European Society of Human Reproduction and Embryology PGD Consortium studies and reports are examined. In addition, criteria for embryo selection, technical aspects of PGD-AS, and potential noninvasive embryo selection methods are described. Indications for PGD and possible causes of discordant PGD results between the centers are discussed. The limitations of fluorescence in situ hybridization, and the advantages of the array comparative genomic hybridization are included in this review. Although PGD-AS for patients of advanced maternal age has been shown to improve in vitro fertilization outcomes in some studies, to our knowledge, there is not sufficient evidence to use advanced maternal age as the sole indication for PGD-AS. PGD-AS might be harmful and may not increase the success rates of in vitro fertilization. At the same time PGD, is not recommended for recurrent implantation failure and unexplained recurrent pregnancy loss.

  15. Insulin-like growth factor-1 protects preimplantation embryos from anti-developmental actions of menadione.

    Science.gov (United States)

    Moss, James I; Pontes, Eduardo; Hansen, Peter James

    2009-11-01

    Menadione is a naphthoquinone used as a vitamin K source in animal feed that can generate reactive oxygen species (ROS) and cause apoptosis. Here, we examined whether menadione reduces development of preimplantation bovine embryos in a ROS-dependent process and tested the hypothesis that actions of menadione would be reduced by insulin-like growth factor-1 (IGF-1). Menadione caused a concentration-dependent decrease in the proportion of embryos that became blastocysts. All concentrations tested (1, 2.5, and 5.0 microM) inhibited development. Treatment with 100 ng/ml IGF-1 reduced the magnitude of the anti-developmental effects of the two lowest menadione concentrations. Menadione also caused a concentration-dependent increase in the percent of cells positive for the TUNEL reaction. The response was lower for IGF-1-treated embryos. The effects of menadione were mediated by ROS because (1) the anti-developmental effect of menadione was blocked by the antioxidants dithiothreitol and Trolox and (2) menadione caused an increase in ROS generation. Treatment with IGF-1 did not reduce ROS formation in menadione-treated embryos. In conclusion, concentrations of menadione as low as 1.0 muM can compromise development of bovine preimplantation embryos to the blastocyst stage of development in a ROS-dependent mechanism. Anti-developmental actions of menadione can be blocked by IGF-1 through effects downstream of ROS generation.

  16. The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis

    Science.gov (United States)

    Deans, Zandra; Fiorentino, Francesco; Biricik, Anil; Traeger-Synodinos, Joanne; Moutou, Céline; De Rycke, Martine; Renwick, Pamela; SenGupta, Sioban; Goossens, Veerle; Harton, Gary

    2013-01-01

    Preimplantation genetic diagnosis (PGD) was first performed over 20 years ago and has become an accepted part of genetic testing and assisted reproduction worldwide. The techniques and protocols necessary to carry out genetic testing at the single-cell level can be difficult to master and have been developed independently by the laboratories worldwide offering preimplantation testing. These factors indicated the need for an external quality assessment (EQA) scheme for monogenic disease PGD. Toward this end, the European Society for Human Reproduction and Embryology came together with United Kingdom National External Quality Assessment Services for Molecular Genetics, to create a pilot EQA scheme followed by practical EQA schemes for all interested parties. Here, we detail the development of the pilot scheme as well as development and findings from the practical (clinical) schemes that have followed. Results were generally acceptable and there was marked improvement in results and laboratory scores for those labs that participated in multiple schemes. Data from the first three schemes indicate that the EQA scheme is working as planned and has helped laboratories improve their techniques and result reporting. The EQA scheme for monogenic PGD will continue to be developed to offer assessment for other monogenic disorders. PMID:23150080

  17. The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Danilo Cimadomo

    2016-01-01

    Full Text Available Preimplantation Genetic Diagnosis and Screening (PGD/PGS for monogenic diseases and/or numerical/structural chromosomal abnormalities is a tool for embryo testing aimed at identifying nonaffected and/or euploid embryos in a cohort produced during an IVF cycle. A critical aspect of this technology is the potential detrimental effect that the biopsy itself can have upon the embryo. Different embryo biopsy strategies have been proposed. Cleavage stage blastomere biopsy still represents the most commonly used method in Europe nowadays, although this approach has been shown to have a negative impact on embryo viability and implantation potential. Polar body biopsy has been proposed as an alternative to embryo biopsy especially for aneuploidy testing. However, to date no sufficiently powered study has clarified the impact of this procedure on embryo reproductive competence. Blastocyst stage biopsy represents nowadays the safest approach not to impact embryo implantation potential. For this reason, as well as for the evidences of a higher consistency of the molecular analysis when performed on trophectoderm cells, blastocyst biopsy implementation is gradually increasing worldwide. The aim of this review is to present the evidences published to date on the impact of the biopsy at different stages of preimplantation development upon human embryos reproductive potential.

  18. Clinical outcomes for couples containing a reciprocal chromosome translocation carrier without preimplantation genetic diagnosis.

    Science.gov (United States)

    Yin, Biao; Zhu, Yuanchang; Wu, Tonghua; Shen, Shuqiu; Zeng, Yong; Liang, Desheng

    2017-03-01

    To evaluate the pregnancy outcomes of couples containing a carrier of a reciprocal chromosome translocation (RCT) after assisted reproductive technology without preimplantation genetic diagnosis. A retrospective study was performed using data for couples with an RCT carrier and control couples with a normal karyotype (1:4 ratio) who underwent assisted reproductive technology cycles at a Chinese fertility center in 2010-2011. The embryos were fertilized via in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). Only the first pick-up cycles were used for analysis. Clinical variables were compared. Compared with the control group (n=164), the RCT group (n=41) had a marginally lower clinical pregnancy rate (46.3% [19/41] vs 54.3% [89/164]), implantation rate (21.7% [23/106] vs 26.9% [118/438]), multiple-gestation pregnancy rate (21.1% [4/19] vs 32.6% [29/89]), and delivery rate (36.6% [15/41] vs 47.6% [78/164]), whereas the spontaneous abortion rate was slightly higher (21.1% [4/19] vs 12.4% [11/89]). However, none of these differences were significant. The clinical outcomes for RCT carriers were acceptable after IVF/ICSI without performing preimplantation genetic diagnosis, indicating that this approach might comprise a feasible alternative fertility treatment for RCT carriers. © 2016 International Federation of Gynecology and Obstetrics.

  19. [Assisted Reproduction and Preimplantation Genetic Diagnosis in Patients Susceptible to Breast Cancer].

    Science.gov (United States)

    Veselá, K; Kocur, T; Horák, J; Horňák, M; Oráčová, E; Hromadová, L; Veselý, J; Trávník, P

    2016-01-01

    Assisted reproduction, as well as pregnancy itself, in patients with breast cancer or other hereditary type of cancer, is a widely discussed topic. In the past, patients treated for breast cancer were rarely involved in the discussion about reproductive possibilities or infertility treatment. However, current knowledge suggests, that breast cancer is neither a contraindication to pregnancy, nor to assisted reproduction techniques. On the contrary, assisted reproduction and preimplantation genetic diagnosis methods might prevent the transmission of genetic risks to the fetus. In this review we summarize data concerning pregnancy risks in patients with increased risk of breast cancer. In addition, we introduce current possibilities and approaches to fertility preservation prior to assisted reproduction treatment as well as novel methods improving the safety of fertility treatment. In the second part of this review, we focus on karyomapping--an advanced molecular genetic tool for elimination of germinal mutations in patients with predisposition to cancer. Moreover, the rapid development of preimplantation genetic diagnosis methods contributes to detection of both chromosomal aneuploidy and causal mutations in a relatively short time-span.

  20. Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.

    Science.gov (United States)

    Lima, Aline Dt; Alves, Vanessa R; Rocha, Andressa R; Martinhago, Ana C; Martinhago, Ciro; Donadio, Nilka; Dzik, Artur; Cavagna, Mario; Gebrim, Luiz H

    2018-03-01

    Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive βHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring.

  1. Expression and localization of heterogeneous nuclear ribonucleoprotein K in mouse ovaries and preimplantation embryos

    International Nuclear Information System (INIS)

    Zhang, Ping; Wang, Ningling; Lin, Xianhua; Jin, Li; Xu, Hong; Li, Rong; Huang, Hefeng

    2016-01-01

    Heterogeneous nuclear ribonucleoprotein K (hnRNP K), an evolutionarily conserved protein, is involved in several important cellular processes that are relevant to cell proliferation, differentiation, apoptosis, and cancer development. However, details of hnRNP K expression during mammalian oogenesis and preimplantation embryo development are lacking. The present study investigates the expression and cellular localization of K protein in the mouse ovaries and preimplantation embryos using immunostaining. We demonstrate, for the first time, that hnRNP K is abundantly expressed in the nuclei of mouse oocytes in primordial, primary and secondary follicles. In germ vesicle (GV)-stage oocytes, hnRNP K accumulates in the germinal vesicle in a spot distribution manner. After germinal vesicle breakdown, speckled hnRNP K is diffusely distributed in the cytoplasm. However, after fertilization, the K protein relocates into the female and male pronucleus and persists in the blastomere nuclei. Localization of K protein in the human ovary and ovarian granulosa cell tumor (GCT) was also investigated. Overall, this study provides important morphological evidence to better understand the possible roles of hnRNP K in mammalian oogenesis and early embryo development. - Highlights: • HnRNP K localizes in the nucleus of GV-stage oocyte in a punctate distribution. • HnRNP K strongly accumulates in zygotic pronuclei as condensed spots. • The localization of hnRNP K during oogenesis and embryogenesis is characteristic. • HnRNP K might have an important role in oogenesis and embryonic development.

  2. Improved survival of macroencapsulated islets of Langerhans by preimplantation of the immunoisolating device: a morphometric study.

    Science.gov (United States)

    Rafael, E; Wu, G S; Hultenby, K; Tibell, A; Wernerson, A

    2003-01-01

    Encapsulation of cells in a semipermeable membrane may in the future provide an opportunity to treat a variety of endocrine and neurological disorders, without the need for lifelong immunosuppression. The physiological conditions in the device are crucial factors for graft survival. Previously, we have shown that the exchange across the immunoisolating membrane and the microcirculation around the TheraCyte device increase around 3 months after implantation. The aim of this study was to determine whether preimplantation of the TheraCyte device would improve the survival of a later transplanted islet graft. A TheraCyte device was implanted SC on one side of the back of a nondiabetic SD rat. After 3 months, 1500 islets isolated from SD rats were transplanted via the device port. At the same time, another device, loaded with the same number of islets, was implanted on the other side of the back. Both devices were explanted 2 weeks after islet transplantation (i.e., 3.5 months and 0.5 month after device implantation, respectively). Six pairs of devices were evaluated by morphometery. The volume densities of viable islets were 0.22 +/- 0.04 in the preimplanted device vs. 0.06 +/- 0.03 in the nonpreimplanted one (p TheraCyte device seems to improve the survival of an encapsulated islet graft and reduce fibroblast outgrowth in the device.

  3. The future (r)evolution of preimplantation genetic diagnosis/human leukocyte antigen testing: ethical reflections.

    Science.gov (United States)

    de Wert, Guido; Liebaers, Inge; Van de Velde, Hilde

    2007-09-01

    There has been increasing support for combining preimplantation genetic diagnosis (PGD) for specific diseases with a test for human leukocyte antigens (HLA) because the generation of HLA-matched umbilical cord blood cells may save the life of a diseased sibling. To date, this procedure has taken place in the context of conceiving another child--PGD/HLA testing type 1. However, it may well become possible to perform PGD/HLA testing outside this context, that is, to select matched embryos from which embryonic stem cells could be derived and used in cell therapy--PGD/HLA testing type 2. A proactive ethical analysis is needed and is presented in this article. Although PGD/HLA testing type 1 can be morally justified, the risks, pitfalls, and practical limitations of this procedure make it necessary to develop alternative strategies. PGD/HLA testing type 2 may provide an alternative strategy. From an ethical point of view, the controversial issue is that this procedure creates embryos purely for instrumental use. However, given the dominant view that the preimplantation embryo has only limited moral value, this alternative may be as morally justified as PGD/HLA testing type 1.

  4. Protein Expression Landscape of Mouse Embryos during Pre-implantation Development

    Directory of Open Access Journals (Sweden)

    Yawei Gao

    2017-12-01

    Full Text Available Pre-implantation embryo development is an intricate and precisely regulated process orchestrated by maternally inherited proteins and newly synthesized proteins following zygotic genome activation. Although genomic and transcriptomic studies have enriched our understanding of the genetic programs underlying this process, the protein expression landscape remains unexplored. Using quantitative mass spectrometry, we identified nearly 5,000 proteins from 8,000 mouse embryos of each stage (zygote, 2-cell, 4-cell, 8-cell, morula, and blastocyst. We found that protein expression in zygotes, morulas, and blastocysts is distinct from 2- to 8-cell embryos. Analysis of protein phosphorylation identified critical kinases and signal transduction pathways. We highlight key factors and their important roles in embryo development. Combined analysis of transcriptomic and proteomic data reveals coordinated control of RNA degradation, transcription, and translation and identifies previously undefined exon-junction-derived peptides. Our study provides an invaluable resource for further mechanistic studies and suggests core factors regulating pre-implantation embryo development.

  5. Can pre-implantation biopsies predict renal allograft function in pediatric renal transplant recipients?

    Directory of Open Access Journals (Sweden)

    Jameela A. Kari

    2015-11-01

    Full Text Available Objectives: To determine the utility of pre-implantation renal biopsy (PIB to predict renal allograft outcomes. Methods: This is a retrospective review of all patients that underwent PIB from January 2003 to December 2011 at the Great Ormond Street Hospital for Children in London, United Kingdom. Thirty-two male patients (56% aged 1.5-16 years (median: 10.2 at the time of transplantation were included in the study and followed-up for 33 (6-78 months. The results were compared with 33 controls. Results: The PIB showed normal histopathological findings in 13 patients (41%, mild chronic vascular changes in 8 (25%, focal tubular atrophy in one, moderate to severe chronic vascular change in 3, mild to moderate acute tubular damage in 6, and tissue was inadequate in one subject. Delayed graft function (DGF was observed in 3 patients; 2 with vascular changes in PIB, and one with normal histopathological findings. Two subjects with PIB changes lost their grafts. The estimated glomerular filtration rate at 3-, and 6-months post-transplantation was lower in children with abnormal PIB changes compared with those with normal PIB. There was one case of DGF in the control group, and 4 children lost their grafts including the one with DGF. Conclusion: Pre-implantation renal biopsy can provide important baseline information of the graft with implications on subsequent medical treatment for pediatric renal transplant recipients.

  6. Preimplantation genetic diagnosis: International standards and the law of the republic of Serbia

    Directory of Open Access Journals (Sweden)

    Rajić Nataša

    2014-01-01

    Full Text Available The process of biomedical assisted reproduction, in addition to the treatment of infertility, also can be implemented for the purpose of prevention of transmission of serious hereditary disease to offspring. This is possible thanks to the preimplantation genetic diagnosis, which involves genetic testing of a few cells of the embryo in the early stage of development before implantation in a woman's body, and its elimination in the case of determining the genetic anomaly. The process of the preimplantation genetic diagnosis faces several constitutional values and raises a series of questions. Some of them were answered by European Court of Human Rights in the case Costa and Pavan v. Italiy. The subject of the paper is the analysis of this decision, which is important from a constitutional point of view, because it establishes guidelines for the interpretation of rules of domestic law. The second task of the paper is the analysis of normative solutions of our legal system in this area, in order to test their compliance with the standards set in this Court's decision.

  7. Expression and localization of heterogeneous nuclear ribonucleoprotein K in mouse ovaries and preimplantation embryos

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Ping [The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai (China); Wang, Ningling [Department of Assisted Reproduction, Shanghai Ninth People' s Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai (China); Lin, Xianhua; Jin, Li [The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai (China); Xu, Hong, E-mail: xuhong1168@126.com [The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai (China); Li, Rong [The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai (China); Huang, Hefeng, E-mail: huanghefg@hotmail.com [The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai (China)

    2016-02-26

    Heterogeneous nuclear ribonucleoprotein K (hnRNP K), an evolutionarily conserved protein, is involved in several important cellular processes that are relevant to cell proliferation, differentiation, apoptosis, and cancer development. However, details of hnRNP K expression during mammalian oogenesis and preimplantation embryo development are lacking. The present study investigates the expression and cellular localization of K protein in the mouse ovaries and preimplantation embryos using immunostaining. We demonstrate, for the first time, that hnRNP K is abundantly expressed in the nuclei of mouse oocytes in primordial, primary and secondary follicles. In germ vesicle (GV)-stage oocytes, hnRNP K accumulates in the germinal vesicle in a spot distribution manner. After germinal vesicle breakdown, speckled hnRNP K is diffusely distributed in the cytoplasm. However, after fertilization, the K protein relocates into the female and male pronucleus and persists in the blastomere nuclei. Localization of K protein in the human ovary and ovarian granulosa cell tumor (GCT) was also investigated. Overall, this study provides important morphological evidence to better understand the possible roles of hnRNP K in mammalian oogenesis and early embryo development. - Highlights: • HnRNP K localizes in the nucleus of GV-stage oocyte in a punctate distribution. • HnRNP K strongly accumulates in zygotic pronuclei as condensed spots. • The localization of hnRNP K during oogenesis and embryogenesis is characteristic. • HnRNP K might have an important role in oogenesis and embryonic development.

  8. Pamphlet day

    OpenAIRE

    Eastwood, Phil; Dunne, Chris; Fowler, Stephen

    2017-01-01

    Pamphlet Day: A Political Protest Pamphlet and Zine Event focused around the occupation of Loughborough Public Library, Granby Street, Loughborough, LE11 3DZ, UK. ABSTRACT “Throughout the 20th Century artists have engaged provocatively with text, images and performance, publishing writings, pamphlets, and manifestos that challenge the status quo.” (1) Loughborough Echo, May 2017 https://www.loughboroughecho.net/whats-on/arts-culture-news/pamphlet-art-feature-events-13038989 A s...

  9. Sex and PRNP genotype determination in preimplantation caprine embryos.

    Science.gov (United States)

    Guignot, F; Perreau, C; Cavarroc, C; Touzé, J-L; Pougnard, J-L; Dupont, F; Beckers, J-F; Rémy, B; Babilliot, J-M; Bed'Hom, B; Lamorinière, J M; Mermillod, P; Baril, G

    2011-08-01

    The objective of this study was to test the accuracy of genotype diagnosis after whole amplification of DNA extracted from biopsies obtained by trimming goat embryos and to evaluate the viability of biopsied embryos after vitrification/warming and transfer. Whole genome amplification (WGA) was performed using Multiple Displacement Amplification (MDA). Sex and prion protein (PRNP) genotypes were determined. Sex diagnosis was carried out by PCR amplification of ZFX/ZFY and Y chromosome-specific sequences. Prion protein genotype determination was performed on codons 142, 154, 211, 222 and 240. Embryos were collected at day 7 after oestrus and biopsied either immediately after collection (blastocysts and expanded blastocysts) or after 24 h of in vitro culture (compacted morulae). Biopsied embryos were frozen by vitrification. Vitrified whole embryos were kept as control. DNA of biopsies was extracted and amplified using MDA. Sex diagnosis was efficient for 97.4% of biopsies and PRNP genotyping was determined in 78.7% of biopsies. After embryo transfer, no significant difference was observed in kidding rate between biopsied and vitrified control embryos, whereas embryo survival rate was different between biopsied and whole vitrified embryos (p = 0.032). At birth, 100% of diagnosed sex and 98.2% of predetermined codons were correct. Offspring PRNP profiles were in agreement with parental genotype. Whole genome amplification with MDA kit coupled with sex diagnosis and PRNP genotype predetermination are very accurate techniques to genotype goat embryos before transfer. These novel results allow us to plan selection of scrapie-resistant genotypes and kid sex before transfer of cryopreserved embryo. © 2010 Blackwell Verlag GmbH.

  10. Associations Between Pre-Implant Psychosocial Factors and Spinal Cord Stimulation Outcome: Evaluation Using the MMPI-2-RF.

    Science.gov (United States)

    Block, Andrew R; Marek, Ryan J; Ben-Porath, Yossef S; Kukal, Deborah

    2017-01-01

    Spinal cord stimulation (SCS) has variable effectiveness in controlling chronic pain. Previous research has demonstrated that psychosocial factors are associated with diminished results of SCS. The objective of this investigation is to examine associations between pre-implant psychological functioning as measured by the Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF) and SCS outcomes. SCS candidates at two sites (total N = 319) completed the MMPI-2-RF and measures of pain, emotional distress, and functional ability as part of a pre-implant psychological evaluation. At an average of 5 months post-implant, patients completed the measures of pain and emotional distress a second time. Poorer SCS outcomes and poorer patient satisfaction were associated with higher pre-implant MMPI-2-RF scores on scales used to assess emotional dysfunction, somatic/cognitive complaints, and interpersonal problems. Ways through which pre-implant psychological evaluations of spinal cord stimulator candidates can be informed by MMPI-2-RF findings are discussed. © The Author(s) 2015.

  11. Culture medium, gas atmosphere and MAPK inhibition affect regulation of RNA-binding protein targets during mouse preimplantation development.

    Science.gov (United States)

    Calder, Michele D; Watson, Patricia H; Watson, Andrew J

    2011-11-01

    During oogenesis, mammalian oocytes accumulate maternal mRNAs that support the embryo until embryonic genome activation. RNA-binding proteins (RBP) may regulate the stability and turnover of maternal and embryonic mRNAs. We hypothesised that varying embryo culture conditions, such as culture medium, oxygen tension and MAPK inhibition, affects regulation of RBPs and their targets during preimplantation development. STAU1, ELAVL1, KHSRP and ZFP36 proteins and mRNAs were detected throughout mouse preimplantation development, whereas Elavl2 mRNA decreased after the two-cell stage. Potential target mRNAs of RBP regulation, Gclc, Slc2a1 and Slc7a1 were detected during mouse preimplantation development. Gclc mRNA was significantly elevated in embryos cultured in Whitten's medium compared with embryos cultured in KSOMaa, and Gclc mRNA was elevated under high-oxygen conditions. Inhibition of the p38 MAPK pathway reduced Slc7a1 mRNA expression while inhibition of ERK increased Slc2a1 mRNA expression. The half-lives of the potential RBP mRNA targets are not regulated in parallel; Slc2a1 mRNA displayed the longest half-life. Our results indicate that mRNAs and proteins encoding five RBPs are present during preimplantation development and more importantly, demonstrate that expression of RBP target mRNAs are regulated by culture medium, gas atmosphere and MAPK pathways.

  12. Shock and patient preimplantation type D personality are associated with poor health status in patients with implantable cardioverter-defibrillator

    DEFF Research Database (Denmark)

    Pedersen, Susanne S.; Tekle, Fetene B; Hoogwegt, Madelein T

    2012-01-01

    Implantable cardioverter-defibrillator (ICD) shock is a critical event to patients associated with well-being after implantation, although other factors may play an equally important role. We compared the association of shock and the patient's preimplantation personality with health status, using...

  13. Perkembangan Praimplantasi Embrio Mencit dengan Materi Genetik yang Berasal dari Parental, Maternal, dan Inti Sel Somatik (PRE-IMPLANTATION DEVELOPMENT OF MOUSE EMBRYO WITH GENETIC MATERIAL DERIVED FROM PARENTAL, MATERNAL AND SOMATIC CELL NUCLEUS

    Directory of Open Access Journals (Sweden)

    Harry Murti

    2014-05-01

    Full Text Available Cloned embryo and parthenogenetic embryo are a potential source of stem cells for regenerativemedicine. Stem cells derived from those embryos are expected to overcome the ethical issues to the use offertilization embryos for therapeutic purposes. The pre-implantation development is a critical step fordeveloping embryos reach the blastocyst stage. The objectives in vivo of this research are to produce mousecloned embryo, parthenogenetic embryo, and fertilized embryo and to study stages of  in vitro pre-implantation development culture. In vivo fertilized embryos, mouse oocytes, and cumulus cells were usedin this study. Treatment was performed on female mice superovulated with PMSG and hCG injections.Two-cell stage of in vivo fertilized embryos were collected on the second day post hCG injection. Clonedembryos were produced through Somatic Cell Nuclear Transfer (SCNT, which included enucleation, nucleartransfer and artificial activation. Parthenogenetic embryos were produced with artificial activationtechnique. The result of the research indicated that SCNT application was able to produce cloned embryos which could develop to blastocyst stage (3,2%. In addition, artificial activation of oocytes could produceparthenogenetic embryos which were able to develop up to the blastocyst stage (8,6%. In conclusion,efficiency level of parthenogenetic embryos that is able to reach the blastocyst stage was higher than in thecloned embryos. Fertilized embryos shows a better development and more efficient compared to in vitrocloned embryos and parthenogenetic embryos cultures.

  14. Parental psychological distress and anxiety after a successful IVF/ICSI procedure with and without preimplantation genetic screening : Follow-up of a randomised controlled trial

    NARCIS (Netherlands)

    Beukers, F.; Houtzager, B. A.; Paap, M C S; Middelburg, K J; Hadders-Algra, M; Bos, A.F.; Kok, J.H.

    Background: Infertility treatment has an acknowledged psychological impact on women and their partners; however, information about the development of parental well-being after child birth is inconclusive. Preimplantation genetic screening (PGS) has been suggested to increase the efficacy of

  15. Parental psychological distress and anxiety after a successful IVF/ICSI procedure with and without preimplantation genetic screening: Follow-up of a randomised controlled trial

    NARCIS (Netherlands)

    Beukers, F.; Houtzager, B. A.; Paap, M. C. S.; Middelburg, K. J.; Hadders-Algra, M.; Bos, A. F.; Kok, J. H.; Cobben, Jan Maarten; van der Heide, Maaike; Koomen, Alice; Repping, Sjoerd; Silberbusch, Lobke; Twisk, Moniek; Mastenbroek, Sebastiaan; van der Veen, Fulco; Bos, Arend F.; Haadsma, Maaike; Hadders-Algra, Mijna; Heineman, Maas Jan; van Hoften, Jacorina; Jongbloed-Pereboom, Marjolein; Keating, Paul; Seggers, Jorien

    2012-01-01

    Background: Infertility treatment has an acknowledged psychological impact on women and their partners; however, information about the development of parental well-being after child birth is inconclusive. Preimplantation genetic screening (PGS) has been suggested to increase the efficacy of

  16. Parental psychological distress and anxiety after a successful IVF/ICSI procedure with and without Preimplantation Genetic Screening. Follow-up of a randomised controlled trail

    NARCIS (Netherlands)

    Beukers, F.; Houtzager, B.A.; Paap, Muirne; Middelburg, K.; Hadders-Algra, M.; Bos, A.F.; Kok, J.H.

    2012-01-01

    Background Infertility treatment has an acknowledged psychological impact on women and their partners; however, information about the development of parental well-being after child birth is inconclusive. Preimplantation genetic screening (PGS) has been suggested to increase the efficacy of

  17. Blood pressure and anthropometrics of 4-y-old children born after preimplantation genetic screening: follow-up of a unique, moderately sized, randomized controlled trial

    NARCIS (Netherlands)

    Seggers, Jorien; Haadsma, Maaike L.; Bastide-van Gemert, Sacha la; Heineman, Maas Jan; Kok, Joke H.; Middelburg, Karin J.; Roseboom, Tessa J.; Schendelaar, Pamela; van den Heuvel, Edwin R.; Hadders-Algra, Mijna

    2013-01-01

    Recent studies suggest that in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are associated with suboptimal cardiometabolic outcome in offspring. It is unknown whether preimplantation genetic screening (PGS), which involves embryo biopsy, affects blood pressure (BP),

  18. Blood pressure and anthropometrics of 4-y-old children born after preimplantation genetic screening : follow-up of a unique, moderately sized, randomized controlled trial

    NARCIS (Netherlands)

    Seggers, Jorien; Haadsma, Maaike L.; la Bastide-van Gemert, Sacha; Heineman, Maas Jan; Kok, Joke H.; Middelburg, Karin J.; Roseboom, Tessa J.; Schendelaar, Pamela; Van den Heuvel, Edwin R.; Hadders-Algra, Mijna

    2013-01-01

    BACKGROUND: Recent studies suggest that in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are associated with suboptimal cardiometabolic outcome in offspring. It is unknown whether preimplantation genetic screening (PGS), which involves embryo biopsy, affects blood pressure

  19. Inner cell mass incarceration in 8-shaped blastocysts does not increase monozygotic twinning in preimplantation genetic diagnosis and screening patients

    Science.gov (United States)

    Zhou, Qin-Wei; Zhang, Shuo-Ping; Lu, Chang-Fu; Gong, Fei; Tan, Yue-Qiu; Lu, Guang-Xiu; Lin, Ge

    2018-01-01

    Background The use of assisted reproductive technology (ART) has been reported to increase the incidence of monozygotic twinning (MZT) compared with the incidence following natural conception. It has been hypothesized that splitting of the inner cell mass (ICM) through a small zona hole may result in MZT. In this study, using a cohort of patients undergoing preimplantation genetic diagnosis/screening (PGD/PGS), we compared the clinical and neonatal outcomes of human 8-shaped blastocysts hatching with ICM incarceration with partially or fully hatched blastocysts, and attempted to verify whether this phenomenon increases the incidence of MZT pregnancy or negatively impact newborns. Methods This retrospective study included 2059 patients undergoing PGD/PGS between March 1, 2013, and December 31, 2015. Clinical and neonatal outcomes were only collected from patients who received a single blastocyst transfer after PGD/PGS (n = 992). A 25- to 30-μm hole was made in the zona of day 3 embryos by laser. The blastocysts were biopsied and vitrified on day 6. The biopsied trophectoderm (TE) cells were analyzed using different genetic methods. One tested blastocyst was thawed and transferred to each patient in the subsequent frozen embryo transfer cycle. All the biopsied blastocysts were divided into three types: 8-shaped with ICM incarceration (type I), partially hatched without ICM incarceration (type II), and fully hatched (type III). ICM/TE grading, clinical and neonatal outcomes were compared between the groups. Results The percentage of grade A ICMs in type I blastocysts (22.2%) was comparable to that in type III blastocysts (20.1%) but higher than that in type II blastocysts (4.5%). The percentage of grade A TEs in type I blastocysts (4.2%) was comparable to that in type II (3.6%) but lower than that in type III (13.5%). There were no significant differences in clinical pregnancy, MZT pregnancy, miscarriage, live birth, MZT births, and neonatal outcomes between the

  20. Choosing between possible lives: legal and ethical issues in preimplantation genetic diagnosis.

    Science.gov (United States)

    Scott, Rosamund

    2006-01-01

    This article critically appraises the current legal scope of the principal applications of preimplantation genetic diagnosis (PGD). This relatively new technique, which is available to some parents undergoing in vitro fertilization (IVF) treatment, aims to ensure that a child is not born with a seemingly undesirable genetic condition. The question addressed here is whether there should be serious reasons to test for genetic conditions in embryos in order to be able to select between them. The Human Fertilisation and Embryology Authority and the Human Genetics Commission have decided that there should be such reasons by broadly aligning the criteria for PGD with those for selective abortion. This stance is critically explored, as are its implications for the possible use of PGD to select either against or for marginal features or for significant traits. The government is currently reviewing the legal scope and regulation of PGD.

  1. Thermal desorption of deuterium from polycrystalline nickel pre-implanted with helium

    International Nuclear Information System (INIS)

    Shi, S.Q.; Abramov, E.; Thompson, D.A.

    1990-01-01

    The thermal desorption technique has been used to study the trapping of deuterium atoms in high-purity polycrystalline nickel pre-implanted with helium for 1 x 10 19 to 5 x 10 20 ions/m 2 . The effect of post-implantation annealing at 703 K and 923 K on the desorption behavior was investigated. Measured values of the total amount of detrapped deuterium (Q T ) and helium concentration were used in a computer simulation of the desorption curve. It was found that the simulation using one or two discrete trap energies resulted in an inadequate fit between the simulated and the measured data. Both experimental and simulation results are explained using a stress-field trapping model. The effective binding energy, E b eff , was estimated to be in the range of 0.4-0.6 eV. Deuterium charging was found to stimulate a release of helium at a relatively low temperature

  2. Designer babies on tap? Medical students' attitudes to pre-implantation genetic screening.

    Science.gov (United States)

    Meisenberg, Gerhard

    2009-03-01

    This paper describes two studies about the determinants of attitudes to pre-implantation genetic screening in a multicultural sample of medical students from the United States. Sample sizes were 292 in study 1 and 1464 in study 2. Attitudes were of an undifferentiated nature, but respondents did make a major distinction between use for disease prevention and use for enhancement. No strong distinctions were made between embryo selection and germ line gene manipulations, and between somatic gene therapy and germ line gene manipulations. Religiosity was negatively associated with acceptance of "designer baby" technology for Christians and Muslims but not Hindus. However, the strongest and most consistent influence was an apparently moralistic stance against active and aggressive interference with natural processes in general. Trust in individuals and institutions was unrelated to acceptance of the technology, indicating that fear of abuse by irresponsible individuals and corporations is not an important determinant of opposition.

  3. Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda.

    Science.gov (United States)

    Klitzman, Robert; Appelbaum, Paul S; Chung, Wendy; Sauer, Mark

    2008-01-01

    Increasing use of preimplantation genetic diagnosis (PGD) poses numerous clinical, social, psychological, ethical, legal and policy dilemmas, many of which have received little attention. Patients and providers are now considering and using PGD for a widening array of genetic disorders, and patients may increasingly seek 'designer babies.' In the USA, although governmental oversight policies have been discussed, few specific guidelines exist. Hence, increasingly, patients and providers will face challenging ethical and policy questions of when and for whom to use PGD, and how it should be financed. These issues should be better clarified and addressed through collection of data concerning the current use of PGD in the USA, including factors involved in decision making about PGD use, as well as the education of the various communities that are, and should be, involved in its implementation. Improved understanding of these issues will ultimately enhance the development and implementation of future clinical guidelines and policies.

  4. Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis.

    Science.gov (United States)

    Chen, J; Wang, J; Lin, X Y; Xu, Y W; He, Z H; Li, H Y; Chen, S Q; Jiang, W Y

    2017-04-01

    As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. A total of 14 unrelated Chinese HA subjects (FVIII activity C, c.304_305insA, c.1594T>A, c.6045G>A, and c.2645_2646insG) were found. The real-time PCR showed that the expression of FVIII mRNAs was lower in HA patients than in normal subjects. Prenatal diagnosis and PGD were successfully performed: Two of three fetuses and four of eight blastomeres were confirmed to be normal. In conclusion, genetic diagnosis of 14 unrelated HA subjects, 20 carrier subjects, three fetuses, and one PGD was successfully performed in our study. © 2016 John Wiley & Sons Ltd.

  5. Synthetic profiles of polypeptides of human oocytes and normal and abnormal preimplantation embryos.

    Science.gov (United States)

    Capmany, G; Bolton, V N

    1999-09-01

    There is considerable variation in the rate of development in vitro of individual preimplantation human embryos. The relationship between the rate of development and patterns of polypeptide synthesis in individual embryos was examined using SDS-PAGE and autoradiography. After incubation in [35S]methionine, 19 polypeptide bands were identified that change between fertilization and the morula stage. Although changes in two of the bands occurred in embryos that were developing normally and in ageing oocytes, and are thus independent of fertilization, the changes identified in the remaining 17 bands occurred only after fertilization. In embryos that were developing abnormally, as assessed by delayed cleavage, cleavage arrest or extensive fragmentation, the alteration in polypeptide synthetic profiles increased with increasing abnormality.

  6. Effect of pre-implanted oxygen in Si on the retention of implanted He

    Energy Technology Data Exchange (ETDEWEB)

    Manuaba, A. [KFKI Research Institute for Particle and Nuclear Physics, P.O. Box 49, H-1525 Budapest (Hungary); Paszti, F. [KFKI Research Institute for Particle and Nuclear Physics, P.O. Box 49, H-1525 Budapest (Hungary)]. E-mail: paszti@rmki.kfki.hu; Ramos, A.R. [ITN - Instituto Tecnologico e Nuclear, Estrada Nacional 10, P-2686-953, Sacavem (Portugal); Khanh, N.Q. [MTA Research Institute for Technical Physics and Materials Science, P.O. Box 49, H-1525 Budapest (Hungary); Pecz, B. [MTA Research Institute for Technical Physics and Materials Science, P.O. Box 49, H-1525 Budapest (Hungary); Zolnai, Z. [MTA Research Institute for Technical Physics and Materials Science, P.O. Box 49, H-1525 Budapest (Hungary); Tunyogi, A. [KFKI Research Institute for Particle and Nuclear Physics, P.O. Box 49, H-1525 Budapest (Hungary); Szilagyi, E. [KFKI Research Institute for Particle and Nuclear Physics, P.O. Box 49, H-1525 Budapest (Hungary)

    2006-08-15

    Buried SiO {sub x} layers, with different x values, were formed by implanting 80 keV O{sup +} ions with different fluences into single crystal Si samples at room temperature. Into each of these O pre-implanted layers, 20 keV He{sup +} was implanted up to the fluence of 1 x 10{sup 17} ion/cm{sup 2}. The He distribution profiles were determined by 2045 keV proton backscattering spectrometry. It was found that as the O content increases, the retained He gradually decreases at the beginning, then rapidly falls at x = 0.6 till it disappears at x = 1.3. The process that leads to this phenomenon is discussed.

  7. Pre-implantation implantable cardioverter defibrillator concerns and Type D personality increase the risk of mortality in patients with an implantable cardioverter defibrillator

    DEFF Research Database (Denmark)

    Pedersen, Susanne S.; van den Broek, Krista C; Erdman, Ruud A M

    2010-01-01

    Little is known about the influence of psychological factors on prognosis in implantable cardioverter defibrillator (ICD) patients. We examined the influence of the distressed personality (Type D) and pre-implantation device concerns on short-term mortality in ICD patients.......Little is known about the influence of psychological factors on prognosis in implantable cardioverter defibrillator (ICD) patients. We examined the influence of the distressed personality (Type D) and pre-implantation device concerns on short-term mortality in ICD patients....

  8. Remodeling of the Nuclear Envelope and Lamina during Bovine Preimplantation Development and Its Functional Implications.

    Directory of Open Access Journals (Sweden)

    Jens Popken

    Full Text Available The present study demonstrates a major remodeling of the nuclear envelope and its underlying lamina during bovine preimplantation development. Up to the onset of major embryonic genome activation (MGA at the 8-cell stage nuclei showed a non-uniform distribution of nuclear pore complexes (NPCs. NPCs were exclusively present at sites where DNA contacted the nuclear lamina. Extended regions of the lamina, which were not contacted by DNA, lacked NPCs. In post-MGA nuclei the whole lamina was contacted rather uniformly by DNA. Accordingly, NPCs became uniformly distributed throughout the entire nuclear envelope. These findings shed new light on the conditions which control the integration of NPCs into the nuclear envelope. The switch from maternal to embryonic production of mRNAs was accompanied by multiple invaginations covered with NPCs, which may serve the increased demands of mRNA export and protein import. Other invaginations, as well as interior nuclear segments and vesicles without contact to the nuclear envelope, were exclusively positive for lamin B. Since the abundance of these invaginations and vesicles increased in concert with a massive nuclear volume reduction, we suggest that they reflect a mechanism for fitting the nuclear envelope and its lamina to a shrinking nuclear size during bovine preimplantation development. In addition, a deposit of extranuclear clusters of NUP153 (a marker for NPCs without associated lamin B was frequently observed from the zygote stage up to MGA. Corresponding RNA-Seq data revealed deposits of spliced, maternally provided NUP153 mRNA and little unspliced, newly synthesized RNA prior to MGA, which increased strongly at the initiation of embryonic expression of NUP153 at MGA.

  9. Pro-apoptotic Effect of Pifithrin-α on Preimplantation Porcine Fertilized Embryo Development

    Directory of Open Access Journals (Sweden)

    Brendan Mulligan

    2012-12-01

    Full Text Available The aim of this study was to investigate the impact of a reported p53 inhibitor, pifithrin-α (PFT-α, on preimplantation porcine in vitro fertilized (IVF embryo development in culture. Treatment of PFT-α was administered at both early (0 to 48 hpi, and later stages (48 to 168 hpi of preimplantation development, and its impact upon the expression of five genes related to apoptosis (p53, bak, bcl-xL, p66Shc and caspase3, was assessed in resulting d 7 blastocysts, using real-time quantitative PCR. Total cell numbers, along with the number of apoptotic nuclei, as detected by the in situ cell death detection assay, were also calculated on d 7 in treated and non-treated control embryos. The results indicate that PFT-α, when administered at both early and later stages of porcine IVF embryo development, increases the incidence of apoptosis in resulting blastocysts. When administered at early cleavage stages, PFT-α treatment was shown to reduce the developmental competence of porcine IVF embryos, as well as reducing the quality of resulting blastocysts in terms of overall cell numbers. In contrast, at later stages, PFT-α administration resulted in marginally increased blastocyst development rates amongst treated embryos, but did not affect cell numbers. However, PFT-α treatment induced apoptosis and apoptotic related gene expression, in all treated embryos, irrespective of the timing of treatment. Our results indicate that PFT-α may severely compromise the developmental potential of porcine IVF embryos, and is a potent apoptotic agent when placed into porcine embryo culture media. Thus, caution should be exercised when using PFT-α as a specific inhibitor of p53 mediated apoptosis, in the context of porcine IVF embryo culture systems.

  10. Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.

    Science.gov (United States)

    Sallevelt, Suzanne C E H; Dreesen, Joseph C F M; Coonen, Edith; Paulussen, Aimee D C; Hellebrekers, Debby M E I; de Die-Smulders, Christine E M; Smeets, Hubert J M; Lindsey, Patrick

    2017-10-01

    Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phenotypic threshold are transferred to the uterus. Because of incidental heteroplasmy deviations in single blastomere and the relatively limited data available, we so far preferred relying on two blastomeres rather than one. Considering the negative effect of a two-blastomere biopsy protocol compared with a single-blastomere biopsy protocol on live birth delivery rate, we re-evaluated the error rate in our current dataset. For the m.3243A>G mutation, sufficient embryos/blastomeres were available for a powerful analysis. The diagnostic error rate, defined as a potential false-negative result, based on a threshold of 15%, was determined in 294 single blastomeres analysed in 73 embryos of 9 female m.3243A>G mutation carriers. Only one out of 294 single blastomeres (0.34%) would have resulted in a false-negative diagnosis. False-positive diagnoses were not detected. Our findings support a single-blastomere biopsy PGD protocol for the m.3243A>G mutation as the diagnostic error rate is very low. As in the early preimplantation embryo no mtDNA replication seems to occur and the mtDNA is divided randomly among the daughter cells, we conclude this result to be independent of the specific mutation and therefore applicable to all mtDNA mutations. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  11. Survivability of freeze-dried probiotic Pediococcus pentosaceus strains GS4, GS17 and Lactobacillus gasseri (ATCC 19992 during storage with commonly used pharmaceutical excipients within a period of 120 days

    Directory of Open Access Journals (Sweden)

    Mayur Bagad

    2017-10-01

    Conclusions: Commonly used excipients can be considered as a vehicle for delivering active principle in probiotic formulation and for sustaining the viability and stability of probiotic strains for a period of 120 d.

  12. Enzymatic amplification of a Y chromosome repeat in a single blastomere allows identification of the sex of preimplantation mouse embryos

    International Nuclear Information System (INIS)

    Bradbury, M.W.; Isola, L.M.; Gordon, J.W.

    1990-01-01

    The polymerase chain reaction (PCR) technique has been adapted to identify the sex of preimplantation mouse embryos rapidly. PCR was used to amplify a specific repeated DNA sequence on the Y chromosome from a single isolated blastomere in under 12 hr. The remainder of the biopsied embryo was then transferred to a pseudopregnant female and carried to term. Using this technique, 72% of embryos can be classed as potentially either male or female. Transfers of such embryos have produced pregnancies with 8/8 fetuses (100%) being of the predicted sex. Variations of the technique have demonstrated certain limitations to the present procedure as well as indicated possible strategies for improvement of the assay. The PCR technique may have wide application in the genetic analysis of preimplantation embryos

  13. Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.

    Science.gov (United States)

    Shamash, Jana; Rienstein, Shlomit; Wolf-Reznik, Haike; Pras, Elon; Dekel, Michal; Litmanovitch, Talia; Brengauz, Masha; Goldman, Boleslav; Yonath, Hagith; Dor, Jehoshua; Levron, Jacob; Aviram-Goldring, Ayala

    2011-01-01

    Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation. Polymorphic markers were used to identify and differentiate between the alleles that carry the translocation and those that are the normal homologous chromosomes. Embryos from two families of robertsonian translocation carriers were successfully analyzed using polymorphic markers haplotyping. Our preliminary results indicate that the PGH is capable of distinguishing between normal, balanced and unbalanced translocation carrier embryos. This method will improve PGD and will enable translocation carriers to avoid transmission of the translocation and the associated medical complications to offspring.

  14. Preimplantation of an immunoprotective device can lower the curative dose of islets to that of free islet transplantation: studies in a rodent model.

    Science.gov (United States)

    Sörenby, Anne K; Kumagai-Braesch, Makiko; Sharma, Amit; Hultenby, Kjell R; Wernerson, Annika M; Tibell, Annika B

    2008-07-27

    Islet graft survival inside macroencapsulation devices is suboptimal. We hypothesized that induction of neovascularization by preimplantation of devices would improve the physiological conditions, thereby lowering the number of islets required for cure. Several rat islets were transplanted to TheraCyte immunoprotective devices implanted subcutaneously in diabetic athymic mice. Cure rates in the groups with preimplanted devices were significantly better than in those with freshly implanted devices (375 islets: 8/8 vs. 1/6, P=0.003; 125 islets: 6/6 vs. 0/7, P=0.001). Morphometric evaluations of the 125 islet groups showed higher fractional and absolute volumes of endocrine tissue in the group with preimplanted devices (P<0.001 and P=0.035, respectively). In the following dose titration study, using preimplanted devices, as low as 50 islets cured diabetic mice (100% cure, n=6). We conclude that preimplantation significantly lowers the curative dose of macroencapsulated islets to levels resembling those of free islets transplanted under the renal capsule.

  15. Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibility.

    Science.gov (United States)

    Wang, C-W; Hui, E C

    2009-01-01

    With the progress in cancer genetics and assisted reproductive technologies, it is now possible for cancer gene mutation carriers not only to reduce cancer mortality through the targeting of surveillance and preventive therapies, but also to avoid the birth of at-risk babies through the choice of different means of reproduction. Thus, the incidence of hereditary cancer syndromes may be decreased in the future. The integration of cancer genetic testing and assisted reproductive technologies raises certain ethical, legal and social issues beyond either genetic testing or assisted reproductive technology itself. In this paper, the reproductive decisions/choices of at-risk young couples and the ethical, legal and social concerns of prenatal genetic testing and preimplantation genetic diagnosis for susceptibility to hereditary cancer syndromes are discussed. Specifically, three ethical principles related to the integration of cancer genetic testing and assisted reproductive technologies, i.e. informed choice, beneficence to children and social justice, and their implications for the responsible translation of these medical techniques into common practice of preventive medicine are highlighted.

  16. Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism.

    Science.gov (United States)

    Bayefsky, Michelle J

    2016-12-01

    Unlike many European nations, the USA has no regulations concerning the use of preimplantation genetic diagnosis (PGD), a technique employed during some fertility treatments to select embryos based on their genes. As such, PGD can and is used for a variety of controversial purposes, including sex selection, selection for children with disabilities such as deafness, and selection for 'saviour siblings' who can serve as tissue donors for sick relatives. The lack of regulation, which is due to particular features of the US political and economic landscape, has ethical and practical implications for patients seeking PGD around the world. This paper contrasts the absence of PGD oversight in the USA with existing PGD policies in Switzerland, Italy, France and the UK. The primary reasons why PGD is not regulated in the USA are addressed, with consideration of factors such as funding for assisted reproductive technology treatmemt and the proximity of PGD to the contentious abortion debate. The obstacles that would need to be overcome in the USA for PGD to be regulated in the future are outlined. Then, the significance of the current divergence in PGD policy for patients around the world are discussed. Regulatory differences create opportunities for reproductive tourism, which result in legal, health and moral challenges. The paper concludes with comments on the need for policymakers around the world to balance respect for the characters and constitutions of their individual countries with appreciation of the needs of infertile patients across the globe.

  17. Risk to preimplantation mouse embryos of combinations of heavy metals and radiation

    International Nuclear Information System (INIS)

    Mueller, W.-U.; Streffer, C.

    1987-01-01

    The influence of arsenic, cadmium, lead or mercury on radiation risk to preimplantation mouse embryos in vitro was studied under various conditions. Morphological development, cell proliferation, and formation of micronuclei were used for assessment of risk after combined exposure to these metals and X-rays. No conditions were found under which arsenic altered radiation risk; the effects were merely additive. Cadmium acted similarly, though a few results indicated that morphological development might be impaired more strongly after combined exposure than expected from the addition of the single effects. Lead enhanced radiation risk with regard to micronucleus formation, but had an additive effect only in the case of morphological development and cell proliferation. Of all four metals, mercury had the greatest potential for enhancement of radiation risk, when morphological development and cell proliferation were studied. The observed combination effects exceeded even those effects which were calculated by taking into account the shape of the dose-effect curves (isobologram analysis, envelope of additivity). Mercury neither induced micro-nuclei nor enhanced their formation in combination experiments. (author)

  18. Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro.

    Science.gov (United States)

    Ottolini, Christian S; Kitchen, John; Xanthopoulou, Leoni; Gordon, Tony; Summers, Michael C; Handyside, Alan H

    2017-08-29

    Following in vitro fertilisation (IVF), only about half of normally fertilised human embryos develop beyond cleavage and morula stages to form a blastocyst in vitro. Although many human embryos are aneuploid and genomically imbalanced, often as a result of meiotic errors inherited in the oocyte, these aneuploidies persist at the blastocyst stage and the reasons for the high incidence of developmental arrest remain unknown. Here we use genome-wide SNP genotyping and meiomapping of both polar bodies to identify maternal meiotic errors and karyomapping to fingerprint the parental chromosomes in single cells from disaggregated arrested embryos and excluded cells from blastocysts. Combined with time lapse imaging of development in culture, we demonstrate that tripolar mitoses in early cleavage cause chromosome dispersal to clones of cells with identical or closely related sub-diploid chromosome profiles resulting in intercellular partitioning of the genome. We hypothesise that following zygotic genome activation (ZGA), the combination of genomic imbalance and partial genome loss disrupts the normal pattern of embryonic gene expression blocking development at the morula-blastocyst transition. Failure to coordinate the cell cycle in early cleavage and regulate centrosome duplication is therefore a major cause of human preimplantation developmental arrest in vitro.

  19. Attitudes Toward Pre-implantation Genetic Diagnosis (PGD) for Genetic Disorders Among Potential Users in Malaysia.

    Science.gov (United States)

    Olesen, Angelina Patrick; Nor, Siti Nurani Mohd; Amin, Latifah

    2016-02-01

    While pre-implantation genetic diagnosis (PGD) is available and legal in Malaysia, there is an ongoing controversy debate about its use. There are few studies available on individuals' attitudes toward PGD, particularly among those who have a genetic disease, or whose children have a genetic disease. To the best of our knowledge, this is, in fact, the first study of its kind in Malaysia. We conducted in-depth interviews, using semi-structured questionnaires, with seven selected potential PGD users regarding their knowledge, attitudes and decisions relating to the use PGD. The criteria for selecting potential PGD users were that they or their children had a genetic disease, and they desired to have another child who would be free of genetic disease. All participants had heard of PGD and five of them were considering its use. The participants' attitudes toward PGD were based on several different considerations that were influenced by various factors. These included: the benefit-risk balance of PGD, personal experiences of having a genetic disease, religious beliefs, personal values and cost. The study's findings suggest that the selected Malaysian participants, as potential PGD users, were supportive but cautious regarding the use of PGD for medical purposes, particularly in relation to others whose experiences were similar. More broadly, the paper highlights the link between the participants' personal experiences and their beliefs regarding the appropriateness, for others, of individual decision-making on PGD, which has not been revealed by previous studies.

  20. Gene Coexpression and Evolutionary Conservation Analysis of the Human Preimplantation Embryos

    Directory of Open Access Journals (Sweden)

    Tiancheng Liu

    2015-01-01

    Full Text Available Evolutionary developmental biology (EVO-DEVO tries to decode evolutionary constraints on the stages of embryonic development. Two models—the “funnel-like” model and the “hourglass” model—have been proposed by investigators to illustrate the fluctuation of selective pressure on these stages. However, selective indices of stages corresponding to mammalian preimplantation embryonic development (PED were undetected in previous studies. Based on single cell RNA sequencing of stages during human PED, we used coexpression method to identify gene modules activated in each of these stages. Through measuring the evolutionary indices of gene modules belonging to each stage, we observed change pattern of selective constraints on PED for the first time. The selective pressure decreases from the zygote stage to the 4-cell stage and increases at the 8-cell stage and then decreases again from 8-cell stage to the late blastocyst stages. Previous EVO-DEVO studies concerning the whole embryo development neglected the fluctuation of selective pressure in these earlier stages, and the fluctuation was potentially correlated with events of earlier stages, such as zygote genome activation (ZGA. Such oscillation in an earlier stage would further affect models of the evolutionary constraints on whole embryo development. Therefore, these earlier stages should be measured intensively in future EVO-DEVO studies.

  1. Preimplantation genetic screening in older women: a cost-effectiveness analysis.

    Science.gov (United States)

    Mersereau, Jennifer E; Plunkett, Beth A; Cedars, Marcelle I

    2008-09-01

    To compare the strategy of traditional IVF with prenatal diagnosis versus IVF with preimplantation genetic screening (IVF/PGS) to prevent aneuploid births in women with advanced maternal age. A decision tree analytic model was created to compare IVF alone versus IVF/PGS to evaluate which strategy is the least costly per healthy (euploid) infant. Outpatient IVF practices. Infertile women, 38-40 and >40 years old. IVF or IVF/PGS. Cost per healthy infant. Using base-case estimates of costs and probabilities in women aged 38-40 years, after a maximum of two fresh IVF cycles and two frozen cycles, the chance of having a healthy infant was 37.8% with IVF alone versus 21.7% with IVF/PGS. The average cost for each strategy is $25,700, but the cost per healthy infant is substantially higher when IVF/PGS is applied as opposed to IVF alone ($118,713 vs. $68,026). To assess the robustness of the model, all probabilities were varied simultaneously in a Monte Carlo simulation, and in 96.2% of trials, IVF alone proved to be the most cost-effective option. Conversely, our data demonstrate that in women aged >40, IVF and IVF/PGS are essentially equal in terms of cost-effectiveness ($122,000 vs. $118,713). IVF alone is less costly per healthy infant than IVF/PGS in women ages 38-40.

  2. Conversion and non-conversion approach to preimplantation diagnosis for chromosomal rearrangements in 475 cycles.

    Science.gov (United States)

    Kuliev, Anver; Janzen, Jeanine Cieslak; Zlatopolsky, Zev; Kirillova, Irina; Ilkevitch, Yury; Verlinsky, Yury

    2010-07-01

    Due to the limitations of preimplantation genetic diagnosis (PGD) for chromosomal rearrangements by interphase fluorescent in-situ hybridization (FISH) analysis, a method for obtaining chromosomes from single blastomeres was introduced by their fusion with enucleated or intact mouse zygotes, followed by FISH analysis of the resulting heterokaryons. Although this allowed a significant improvement in the accuracy of testing of both maternally and paternally derived translocations, it is still labour intensive and requires the availability of fertilized mouse oocytes, also creating ethical issues related to the formation of interspecies heterokaryons. This method was modified with a chemical conversion procedure that has now been clinically applied for the first time on 877 embryos from PGD cycles for chromosomal rearrangements and has become the method of choice for performing PGD for structural rearrangements. This is presented within the context of overall experience of 475 PGD cycles for translocations with pre-selection and transfer of balanced or normal embryos in 342 (72%) of these cycles, which resulted in 131 clinical pregnancies (38%), with healthy deliveries of 113 unaffected children. The spontaneous abortion rate in these cycles was as low as 17%, which confirms an almost five-fold reduction of spontaneous abortion rate following PGD for chromosomal rearrangements. 2010 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  3. Effect of Intracytoplasmic Sperm Injection (ICSI on Mouse Embryos Preimplantational Development

    Directory of Open Access Journals (Sweden)

    Claudia Cârstea

    2012-05-01

    Full Text Available It is known that the in vitro culture (IVC of preimplantation embryos is associated with changes in gene expression. It is however, not known if the method of fertilization affects the global pattern of gene expression. We compared the development of mouse blastocysts produced by intracytoplasmic sperm injection (ICSI versus blastocysts fertilized in vivo and cultured in vitro from the zygote stage (IVC. At the end of cultivation (96 hrs for blastocyst stage embryos, expanded blastocysts of each group were randomly selected, and ICM and total cells number were differentially stained. The total cell number of blastocysts was estimated by counting the total number of nuclei using DAPI staining. Cell number for inner cell mass (ICM was estimated by counting the OCT4 (POU5FL positive cells. Digitally recombined, composite images were analyzed using the Zeiss Axion Vision software and Zeiss Apotome. All 5–10 optical sections were divided using a standard grid over each layer to count all. Comparing the total cells and the ICM cells number, it appears that each method of fertilization has a unique pattern development. The developmental rate and the total cell number of the blastocyst were significantly lower in ICSI versus in vivo fertilized embryos which affect the embryonic developmental rate and the total cell number of blastocysts.

  4. The Influence of Single Nucleotide Polymorphism Microarray-Based Molecular Karyotype on Preimplantation Embryonic Development Potential.

    Directory of Open Access Journals (Sweden)

    Gang Li

    Full Text Available In order to investigate the influence of the molecular karyotype based on single nucleotide polymorphism (SNP microarray on embryonic development potential in preimplantation genetic diagnosis (PGD, we retrospectively analyzed the clinical data generated by PGD using embryos retrieved from parents with chromosome rearrangements in our center. In total, 929 embryos from 119 couples had exact diagnosis and development status. The blastocyst formation rate of balanced molecular karyotype embryos was 56.6% (276/488, which was significantly higher than that of genetic imbalanced embryos 24.5% (108/441 (P35 respectively. Blastocyst formation rates of male and female embryos were 44.5% (183/411 and 38.8% (201/518 respectively, with no significant difference between them (P>0.05. The rates of balanced molecular karyotype embryos vary from groups of embryos with different cell numbers at 68 hours after insemination. The blastocyst formation rate of embryos with 6-8 cells (48.1% was significantly higher than that of embryos with 8 cells (42.9% (P8 cells, embryos with 6-8 blastomeres have higher rate of balanced molecular karyotype and blastocyst formation.

  5. Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.

    Science.gov (United States)

    Girardet, A; Ishmukhametova, A; Willems, M; Coubes, C; Hamamah, S; Anahory, T; Des Georges, M; Claustres, M

    2015-02-01

    This study provides an overview of 10 years of experience of preimplantation genetic diagnosis (PGD) for cystic fibrosis (CF) in our center. Owing to the high allelic heterogeneity of CF transmembrane conductance regulator (CFTR) mutations in south of France, we have set up a powerful universal test based on haplotyping eight short tandem repeats (STR) markers together with the major mutation p.Phe508del. Of 142 couples requesting PGD for CF, 76 have been so far enrolled in the genetic work-up, and 53 had 114 PGD cycles performed. Twenty-nine cycles were canceled upon in vitro fertilization (IVF) treatment because of hyper- or hypostimulation. Of the remaining 85 cycles, a total of 493 embryos were biopsied and a genetic diagnosis was obtained in 463 (93.9%), of which 262 (without or with a single CF-causing mutation) were transferable. Twenty-eight clinical pregnancies were established, yielding a pregnancy rate per transfer of 30.8% in the group of seven couples with one member affected with CF, and 38.3% in the group of couples whose both members are carriers of a CF-causing mutation [including six couples with congenital bilateral absence of the vas deferens (CBAVD)]. So far, 25 children were born free of CF and no misdiagnosis was recorded. Our test is applicable to 98% of couples at risk of transmitting CF. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Establishment of a Simple and Useful Way for Preimplantation Genetic Diagnosis of Chromosomal Diseases

    Institute of Scientific and Technical Information of China (English)

    LUO Haining; ZHU Guijin; LIU Qun; CHEN Wen; LI Zhou

    2007-01-01

    In order to establish a simple and useful way for preimplantation genetic diagnosis (PGD)of chromosomal diseases in general IVF laboratory, the methods that are most commonly used in the embryo biopsy, fixation of blastomere and fluorescence in situ hybridization were compared. The three aspects of PGD were analyzed respectively. There was no significant difference in further development capacity of embryos between mechanical (79.7%) and chemical biopsy group (78.6%)(P>0.05). In this study, more cells were successfully fixed with the Tween/HCL method (93.8%) than with the methanol/acetic acid method (80.5%, P<0.05). There was no significant difference in cytoplasm remains between methanol/acetic acid method and Tween/HCL method (P>0.05). The hybridization efficiency of fluorescence in situ hybridization was 89.5% in successive denaturation method and 90.9% in codenaturation method with the difference being not significant (P>0.05). In conclusion, the mechanical or chemical method, Tween/HCL fixation method and codenaturation fluorescence in situ hybridization method can constitute a simple and useful way for PGD of chromosomal diseases.

  7. Comparison of Attitudes Regarding Preimplantation Genetic Diagnosis Among Patients with Hereditary Cancer Syndromes

    Science.gov (United States)

    Rich, Thereasa A.; Liu, Mei; Etzel, Carol J.; Bannon, Sarah A.; Mork, Maureen E.; Ready, Kaylene; Saraiya, Devki S.; Grubbs, Elizabeth G.; Perrier, Nancy D.; Lu, Karen H.; Arun, Banu K.; Woodard, Terri L.; Schover, Leslie R.; Litton, Jennifer K.

    2014-01-01

    Introduction Preimplantation Genetic Diagnosis (PGD) allows couples to avoid having a child with an inherited condition, potentially reducing cancer burden in families with a hereditary cancer predisposition. This study investigated awareness and acceptance of PGD among patients with hereditary cancer syndromes. Methods Questionnaires were mailed to 984 adults with hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, or multiple endocrine neoplasia type 1 or 2. Associations between clinical, demographic, and psychosocial factors and awareness and acceptance of PGD were examined. Results Of 370 respondents (38% return rate), 28% felt their syndrome impacted family planning, 24% were aware of PGD, 72% felt that PGD should be offered, 43% would consider using PGD, and 29% were uncertain. Family experience and syndrome-specific characteristics, such as disease severity, quality of life and availability of medical interventions as well as gender, family planning stage, and religiosity impact perceptions of the acceptability of PGD, though a high level of uncertainty exists. Conclusion Hereditary cancer patients' opinions about the acceptability of PGD are similar to those of genetics and ethical experts. Patients should be told about PGD given that most had not heard of PGD, but feel that PGD should be offered. PMID:24072553

  8. Knowledge and Educational Needs about Pre-Implantation Genetic Diagnosis (PGD among Oncology Nurses

    Directory of Open Access Journals (Sweden)

    Gwendolyn P. Quinn

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis (PGD, a form of assisted reproductive technology, is a new technology with limited awareness among health care professionals and hereditary cancer families. Nurses play a key role in the care of patients and are often in an ideal position to discuss and refer patients on sensitive quality of life issues, such as PGD. Two hundred and one nurses at Moffitt Cancer Center (MCC responded to an online survey assessing knowledge and educational needs regarding PGD and families with hereditary cancer. The majority of respondents were female (n = 188, white (n = 175, had an RN/BSN degree (n = 83, and provided outpatient care at the cancer center (n = 102. More than half of respondents (78% were unfamiliar with PGD prior to the survey and respondents who had heard of PGD had limited knowledge. More than half of the participants reported PGD was an acceptable option for families with hereditary cancer syndromes and thought individuals with a strong family or personal history should be provided with information about PGD. This study indicates that oncology nurses may benefit from and desire education about PGD. With advances in reproductive technology and options, further PGD education is needed among healthcare professionals. An examination of current oncology nursing curriculum and competencies regarding genetic education may identify need for future revisions and updates.

  9. Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

    Science.gov (United States)

    Smeets, Hubert J M; Sallevelt, Suzanne C E H; Dreesen, Jos C F M; de Die-Smulders, Christine E M; de Coo, Irenaeus F M

    2015-09-01

    Mitochondrial disorders are among the most common inborn errors of metabolism; at least 15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de novo or are maternally inherited. For familial heteroplasmic mtDNA mutations, the mitochondrial bottleneck defines the mtDNA mutation load in offspring, with an often high or unpredictable recurrence risk. Oocyte donation is a safe option to prevent the transmission of mtDNA disease, but the offspring resulting from oocyte donation are genetically related only to the father. Prenatal diagnosis (PND) is technically possible but usually not applicable because of limitations in predicting the phenotype. For de novo mtDNA point mutations, recurrence risks are low and PND can be offered to provide reassurance regarding fetal health. PND is also the best option for female carriers with low-level mutations demonstrating skewing to 0% or 100%. A fairly new option for preventing the transmission of mtDNA diseases is preimplantation genetic diagnosis (PGD), in which embryos with a mutant load below a mutation-specific or general expression threshold of 18% can be transferred. PGD is currently the best reproductive option for familial heteroplasmic mtDNA point mutations. Nuclear genome transfer and genome editing techniques are currently being investigated and might offer additional reproductive options for specific mtDNA disease cases. © 2015 New York Academy of Sciences.

  10. Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification.

    Science.gov (United States)

    Ren, Zi; Zeng, Hai-tao; Xu, Yan-wen; Zhuang, Guang-lun; Deng, Jie; Zhang, Cheng; Zhou, Can-quan

    2009-02-01

    To evaluate the use of multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD) for female carriers with Duchenne muscular dystrophy (DMD). MDA was used to amplify a whole genome of single cells. Following the setup on single cells, the test was applied in two clinical cases of PGD. One mutant exon, six short tandem repeats (STR) markers within the dystrophin gene, and amelogenin were incorporated into singleplex polymerase chain reaction (PCR) assays on MDA products of single blastomeres. Center for reproductive medicine in First Affiliated Hospital, Sun Yat-sen University, China. Two female carriers with a duplication of exons 3-11 and a deletion of exons 47-50, respectively. The MDA of single cells and fluorescent PCR assays for PGD. The ability to analyze single blastomeres for DMD using MDA. The protocol setup previously allowed for the accurate diagnosis of each embryo. Two clinical cases resulted in a healthy girl, which was the first successful clinical application of MDA in PGD for DMD. We suggest that this protocol is reliable to increase the accuracy of the PGD for DMD.

  11. Review of patient decision-making factors and attitudes regarding preimplantation genetic diagnosis.

    Science.gov (United States)

    Genoff Garzon, M C; Rubin, L R; Lobel, M; Stelling, J; Pastore, L M

    2017-11-09

    The increasing technical complexity and evolving options for repro-genetic testing have direct implications for information processing and decision making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision-making factors, and illuminates gaps for future research and clinical translation. Twenty-five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD. Thirteen reports were focused exclusively on a specific disease or condition. Five themes emerged: (1) patients motivated by prospects of a healthy, genetic-variant-free child, (2) PGD requires a commitment of time, money, energy and emotions, (3) patients concerned about logistics and ethics of discarding embryos, (4) some patients feel sense of responsibility to use available technologies, and (5) PGD decisions are complex for individuals and couples. Patient research on PGD decision-making processes has very infrequently used validated instruments, and the data collected through both quantitative and qualitative designs have been inconsistent. Future research for improving clinical counseling is needed to fill many gaps remaining in the literature regarding this decision-making process, and suggestions are offered. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Preimplantation genetic diagnosis: a systematic review of litigation in the face of new technology.

    Science.gov (United States)

    Amagwula, Tochi; Chang, Peter L; Hossain, Amjad; Tyner, Joey; Rivers, Aimée L; Phelps, John Y

    2012-11-01

    To study legal cases against IVF facilities pertaining to preimplantation genetic diagnosis (PGD) misdiagnosis. Systematic case law review. University medical center using US legal databases. The IVF recipients using PGD services. Lawsuits pertaining to PGD against IVF facilities. Lawsuits, court rulings, damage awards, and settlements pertaining to PGD after the birth of a child with a genetic defect. Causes of action pertaining to PGD arise from negligence in performing the procedure as well as failure to properly inform patients of key information, such as inherent errors associated with the PGD process, a facility's minimal experience in performing PGD, and the option of obtaining PGD. Courts have sympathized with the financial burden involved in caring for children with disabilities. Monetary damage awards are based on the costs of caring for children with debilitating defects, including lifetime medical and custodial care. Facilities offering PGD services expose themselves to a new realm of liability in which damage awards can easily exceed the limits of a facility's insurance policy. Competent laboratory personnel and proper informed consent--with particular care to inform patients of the inherent inaccuracies of PGD--are crucial in helping deter liability. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

    Science.gov (United States)

    Steffann, Julie; Michot, Caroline; Borghese, Roxana; Baptista-Fernandes, Marcia; Monnot, Sophie; Bonnefont, Jean-Paul; Munnich, Arnold

    2014-05-01

    PCR amplification on single cells is prone to allele drop-out (PCR failure of one allele), a cause of misdiagnosis in preimplantation genetic diagnosis (PGD). Owing to this error risk, PGD usually relies on both direct and indirect genetic analyses. When the affected partner is the sporadic case of a dominant disorder, building haplotypes require spermatozoon or polar body testing prior to PGD, but these procedures are cost and time-consuming. A couple requested PGD because the male partner suffered from a dominant Cowden syndrome (CS). He was a sporadic case, but the couple had a first unaffected child and the non-mutated paternal haplotype was tentatively deduced. The couple had a second spontaneous pregnancy and the fetus was found to carry the at-risk haplotype but not the PTEN mutation. The mutation was present in blood from the affected father, but at low level, confirming the somatic mosaicism. Ignoring the possibility of mosaicism in the CS patient would have potentially led to selection of affected embryos. This observation emphasizes the risk of PGD in families at risk to transmit autosomal-dominant disorder when the affected partner is a sporadic case.

  14. Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.

    Science.gov (United States)

    Malcov, Mira; Reches, Adi; Ben-Yosef, Dalit; Cohen, Tania; Amit, Ami; Dgany, Orly; Tamary, Hannah; Yaron, Yuval

    2010-03-01

    Severe congenital neutropenia is an inherited disease characterized by low peripheral blood neutrophils, amenable to bone marrow transplantation. Genetic analysis in the family here described detected a ELA2 splice-site mutation in the affected child and also in his asymptomatic father. The parents requested preimplantation genetic diagnosis (PGD), coupled with HLA matching, to obtain a suitable bone marrow donor for the affected child. A PGD protocol was developed, based on multiplex nested PCR for direct analysis of the ELA2 mutation, flanking polymorphic markers and HLA typing. The amplification efficiency of the mutation was > 90% in single leukocytes from the affected child but only 67% in the father. Analysis of single haploid sperm cells from the father demonstrated three different sperm-cell populations: (1) sperm cells harboring the ELA2 mutation on the 'affected' haplotype, (2) sperm cells without the ELA2 mutation on the 'normal' haplotype, and (3) sperm cells without the ELA2 mutation on the 'affected' haplotype. These data demonstrate that the ELA2 mutation in the father occurred de novo during his embryonic development, resulting in somatic as well as germ-line mosaicism. This conclusion was also taken into consideration when PGD was performed. Copyright (c) 2010 John Wiley & Sons, Ltd.

  15. Effect of organically bound tritium (OBT) on pre-implantation mouse embryos in vitro

    International Nuclear Information System (INIS)

    Yamada, Takeshi; Ohyama, Harumi

    1989-01-01

    Effect of organically bound tritium (OBT), such as tritiated thymidine and tritium-labeled amino acids, on mouse preimplantation embryos was examined in vitro. Mouse zygotes fertilized in vitro (BC3F 1 eggs x ICR sperm) were cultured in the media containing OBT in various concentrations up to the blastocyst stage. The LD 50 in terms of tritium concentrations in the culture medium were determined by measuring tritium concentrations in the medium to inhibit 50 % of embryos to form blastocyst in vitro. Tritium activities in the embryos were measured at various times during culture of embryos at LD 50 concentration in order to estimate absorbed radiation dose in embryonic cells. The LD 50 values obtained indicate that OBT could inhibit the embryonic development 1000 times more effectively that tritiated water (HTO). However, differences in LD 50 values in terms of absorbed radiation dose between OBT and HTO is not so essential, and might be explained by localized spatial distribution of OBT within the cell. (author)

  16. Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis

    Science.gov (United States)

    Altarescu, Gheona; Beeri, Rachel; Eiges, Rachel; Epsztejn-Litman, Silvina; Eldar-Geva, Talia; Elstein, Deborah; Zimran, Ari; Margalioth, Ehud J.; Levy-Lahad, Ephrat; Renbaum, Paul

    2012-01-01

    Preimplantation genetic diagnosis (PGD) allows birth of unaffected children for couples at risk for a genetic disorder. We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD): Tay-Sachs disease (TSD), Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (HS), and subsequent development of stem cell lines. For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation. Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two) or on single blastomeres from a six-cell embryo. We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14), and HS/oculocutaneus albinism). These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families. We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children. In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research. PMID:23320174

  17. Caspase activity and expression of cell death genes during development of human preimplantation embryos.

    Science.gov (United States)

    Spanos, S; Rice, S; Karagiannis, P; Taylor, D; Becker, D L; Winston, R M L; Hardy, K

    2002-09-01

    It has been observed that apoptosis occurs in human blastocysts. In other types of cell, the characteristic morphological changes seen in apoptotic cells are executed by caspases, which are regulated by the BCL-2 family of proteins. This study investigated whether these components of the apoptotic cascade are present throughout human preimplantation development. Developing and arrested two pronucleate embryos at all stages were incubated with a fluorescently tagged caspase inhibitor that binds only to active caspases, fixed, counterstained with 4,6-diamidino-2-phenylindole (DAPI) to assess nuclear morphology and examined using confocal microscopy. Active caspases were detected only after compaction, at the morula and blastocyst stages, and were frequently associated with apoptotic nuclei. Occasional labelling was seen in arrested embryos. Expression of proapoptotic BAX and BAD and anti-apoptotic BCL-2 was examined in single embryos using RT-PCR and immunohistochemistry. BAX and BCL-2 mRNAs were expressed throughout development, whereas BAD mRNA was expressed mainly after compaction. Simultaneous expression of BAX and BCL-2 proteins within individual embryos was confirmed using immunohistochemistry. The onset of caspase activity and BAD expression after compaction correlates with the previously reported appearance of apoptotic nuclei. As in other types of cell, human embryos express common molecular components of the apoptotic cascade, although apoptosis appears to be suppressed before compaction and differentiation.

  18. Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism

    Directory of Open Access Journals (Sweden)

    Michelle J Bayefsky

    2016-12-01

    Full Text Available Unlike many European nations, the USA has no regulations concerning the use of preimplantation genetic diagnosis (PGD, a technique employed during some fertility treatments to select embryos based on their genes. As such, PGD can and is used for a variety of controversial purposes, including sex selection, selection for children with disabilities such as deafness, and selection for ‘saviour siblings’ who can serve as tissue donors for sick relatives. The lack of regulation, which is due to particular features of the US political and economic landscape, has ethical and practical implications for patients seeking PGD around the world. This paper contrasts the absence of PGD oversight in the USA with existing PGD policies in Switzerland, Italy, France and the UK. The primary reasons why PGD is not regulated in the USA are addressed, with consideration of factors such as funding for assisted reproductive technology treatmemt and the proximity of PGD to the contentious abortion debate. The obstacles that would need to be overcome in the USA for PGD to be regulated in the future are outlined. Then, the significance of the current divergence in PGD policy for patients around the world are discussed. Regulatory differences create opportunities for reproductive tourism, which result in legal, health and moral challenges. The paper concludes with comments on the need for policymakers around the world to balance respect for the characters and constitutions of their individual countries with appreciation of the needs of infertile patients across the globe.

  19. Paternal and maternal factors in preimplantation embryogenesis: interaction with the biochemical environment.

    Science.gov (United States)

    Ménézo, Yves J R

    2006-05-01

    Paternal effect on embryonic development occurs as early as fertilization. Incorrect formation of the spermatozoon due to centrosome defects and abnormal concentrations of any components involved in the activation process lead to failure immediately or in the subsequent cell cycles. Sperm chromosomal abnormalities result in early embryo developmental arrests. Generally poor spermatozoa lead to poor blastocyst formation. Sperm DNA fragmentation may impair even late post-implantation development. The DNA repair capacity of the oocytes is of major importance. Early preimplantation development, i.e. until maternal to zygotic transition, is maternally driven. Maternal mRNAs and proteins are of major importance, as there is an unavoidable turnover of these reserves. Polyadenylation of these mRNAs is precisely controlled, in order to avoid too early or too late transcription and translation of the housekeeping genes. An important set of maternal regulations, such as DNA stability, transcriptional regulation and protection against oxidative stress, are impaired by age. The embryo biochemical endogenous pool is very important and may depend upon the environment, i.e. the culture medium. Paternal, maternal and environmental factors are unavoidable parameters; they become evident when age impairs oocyte quality.

  20. The value of blastocyst culture on preimplantation genetic diagnosis%囊胚培养在植入前遗传学诊断中的价值

    Institute of Scientific and Technical Information of China (English)

    偶健; 王玮; 马燕琳; 周知; 丁洁; 王馥新; 段程颖; 李林江; 郑爱燕

    2015-01-01

    Objective To estimate the value of blastocyst culture for preimplantation genetic diagnosis (PGD).Methods Day 3 embryos were biopsied and analyzed with fluorescence in situ hybridization (FISH) technique.Embryos with normal FISH results were cultured into blastocysts,and the ones with better morphology scores were transferred.Fourteen embryos with abnormal FISH results were cultured into blastocysts.Part of the cells taken from the blastocysts were amplified by whole genomic amplification (WGA) and assessed by array-based comparative genomic hybridization (array-CGH) analysis.Results Six blastocysts with normal FISH results were transferred in 5 cycles.Four healthy babies of 3 cycles were delivered.Another one was a singleton pregnancy but with embryo growth arrest,whose villus karyotype was normal.Fourteen embryos with abnormal FISH results were cultured into blastocysts and analyzed by array-CGH.Six blastocysts were normal by array-CGH.Conclusion FISH combined with blastocyst culture may further ensure the accuracy of PGD result.Detection at the blastocyst stage can avoid false positive results and mosaic interferences on Day 3 stage and are therefore more authentic.%目的 探讨囊胚培养在植入前遗传学诊断(preimplantation genetic diagnosis,PGD)中的应用价值.方法 受精后第3天(Day 3)行胚胎活检,进行荧光原位杂交(fluorescent in situ hybridization,FISH).对于诊断为正常的胚胎,培养到囊胚阶段后选择形态评分优良的囊胚进行移植;对于诊断为异常的胚胎,有14个培养到囊胚阶段,各取其一部分细胞用于全基因组扩增(whole genomic amplification,WGA),将扩增后的DNA用微阵列比较基因组杂交(array-based comparative genomic hybridization,arrayCGH)进行再次检测.结果 FISH诊断为正常的6个囊胚进行了5个周期的胚胎移植,3个周期成功生育了4个健康婴儿,1个周期单胎妊娠见胚囊后流产,绒毛染色体检测为正常核型.FISH诊断为异常的14

  1. Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray.

    Science.gov (United States)

    Xie, Yanxin; Xu, Yanwen; Wang, Jing; Miao, Benyu; Zeng, Yanhong; Ding, Chenhui; Gao, Jun; Zhou, Canquan

    2018-01-01

    The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following a preimplantation genetic diagnosis (PGD) with whole chromosome screening with an aCGH and SNP microarray. We also analyzed the chromosomal numerical abnormalities in embryos with aneuploidy in parental chromosomes that were not involved with a translocation and balanced in involved parental translocation chromosomes. This retrospective study included 832 embryos obtained from rcp carriers and 382 embryos from RT carriers that were biopsied in 139 PGD cycles. The control group involved embryos obtained from age-matched patient karyotypes who were undergoing preimplantation genetic screening (PGS) with non-translocation, and 579 embryos were analyzed in the control group. A single blastomere at the cleavage stage or trophectoderm from a blastocyst was biopsied, and 24-chromosomal analysis with an aCGH/SNP microarray was conducted using the PGD/PGS protocols. Statistical analyses were implemented on the incidences of cumulative aneuploidy rates between the translocation carriers and the control group. Reliable results were obtained from 138 couples, among whom only one patient was a balanced rcp or RT translocation carrier, undergoing PGD testing in our center from January 2012 to June 2014. For day 3 embryos, the aneuploidy rates were 50.7% for rcp carriers and 49.1% for RT carriers, compared with the control group, with 44.8% at a maternal age < 36 years. When the maternal age was ≥ 36 years, the aneuploidy rates were increased to 61.1% for rcp carriers, 56.7% for RT carriers, and 60.3% for the control group. There were no significant differences. In day 5 embryos, the aneuploidy rates were 24.5% for rcp carriers and 34.9% for RT carriers, compared with the control group with 53.6% at a maternal age < 36 years. When the maternal age was ≥ 36

  2. Stress-induced changes in the expression of the clock protein PERIOD1 in the rat limbic forebrain and hypothalamus: role of stress type, time of day, and predictability.

    Directory of Open Access Journals (Sweden)

    Sherin Al-Safadi

    Full Text Available Stressful events can disrupt circadian rhythms in mammals but mechanisms underlying this disruption remain largely unknown. One hypothesis is that stress alters circadian protein expression in the forebrain, leading to functional dysregulation of the brain circadian network and consequent disruption of circadian physiological and behavioral rhythms. Here we characterized the effects of several different stressors on the expression of the core clock protein, PER1 and the activity marker, FOS in select forebrain and hypothalamic nuclei in rats. We found that acute exposure to processive stressors, restraint and forced swim, elevated PER1 and FOS expression in the paraventricular and dorsomedial hypothalamic nuclei and piriform cortex but suppressed PER1 and FOS levels exclusively in the central nucleus of the amygdala (CEAl and oval nucleus of the bed nucleus of the stria terminalis (BNSTov. Conversely, systemic stressors, interleukin-1β and 2-Deoxy-D-glucose, increased PER1 and FOS levels in all regions studied, including the CEAl and BNSTov. PER1 levels in the suprachiasmatic nucleus (SCN, the master pacemaker, were unaffected by any of the stress manipulations. The effect of stress on PER1 and FOS was modulated by time of day and, in the case of daily restraint, by predictability. These results demonstrate that the expression of PER1 in the forebrain is modulated by stress, consistent with the hypothesis that PER1 serves as a link between stress and the brain circadian network. Furthermore, the results show that the mechanisms that control PER1 and FOS expression in CEAl and BNSTov are uniquely sensitive to differences in the type of stressor. Finally, the finding that the effect of stress on PER1 parallels its effect on FOS supports the idea that Per1 functions as an immediate-early gene. Our observations point to a novel role for PER1 as a key player in the interface between stress and circadian rhythms.

  3. fMRI as a Preimplant Objective Tool to Predict Postimplant Oral Language Outcomes in Children with Cochlear Implants.

    Science.gov (United States)

    Deshpande, Aniruddha K; Tan, Lirong; Lu, Long J; Altaye, Mekibib; Holland, Scott K

    2016-01-01

    Despite the positive effects of cochlear implantation, postimplant variability in speech perception and oral language outcomes is still difficult to predict. The aim of this study was to identify neuroimaging biomarkers of postimplant speech perception and oral language performance in children with hearing loss who receive a cochlear implant. The authors hypothesized positive correlations between blood oxygen level-dependent functional magnetic resonance imaging (fMRI) activation in brain regions related to auditory language processing and attention and scores on the Clinical Evaluation of Language Fundamentals-Preschool, Second Edition (CELF-P2) and the Early Speech Perception Test for Profoundly Hearing-Impaired Children (ESP), in children with congenital hearing loss. Eleven children with congenital hearing loss were recruited for the present study based on referral for clinical MRI and other inclusion criteria. All participants were stimulation. A voxel-based analysis technique was utilized to generate z maps showing significant contrast in brain activation between auditory stimulation conditions (spoken narratives and narrow band noise). CELF-P2 and ESP were administered 2 years after implantation. Because most participants reached a ceiling on ESP, a voxel-wise regression analysis was performed between preimplant fMRI activation and postimplant CELF-P2 scores alone. Age at implantation and preimplant hearing thresholds were controlled in this regression analysis. Four brain regions were found to be significantly correlated with CELF-P2 scores. These clusters of positive correlation encompassed the temporo-parieto-occipital junction, areas in the prefrontal cortex and the cingulate gyrus. For the story versus silence contrast, CELF-P2 core language score demonstrated significant positive correlation with activation in the right angular gyrus (r = 0.95), left medial frontal gyrus (r = 0.94), and left cingulate gyrus (r = 0.96). For the narrow band noise versus

  4. Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family

    DEFF Research Database (Denmark)

    Xu, Yanwen; Chen, Shengpei; Yin, Xuyang

    2015-01-01

    for a β-thalassemia-carrier couple to have a healthy second baby. We carried out sequencing for single blastomere cells and the family trio and further developed the analysis pipeline, including recovery of the missing alleles, removal of the majority of errors, and phasing of the embryonic genome...... leukocyte antigen matching tests. CONCLUSIONS: This retrospective study in a β-thalassemia family demonstrates a method for embryo genome recovery through single-cell sequencing, which permits detection of genetic variations in preimplantation genetic diagnosis. It shows the potential of single...

  5. In vitro development rate of preimplantation rabbit embryos cultured with different levels of melatonin.

    Science.gov (United States)

    Mehaisen, Gamal Mohamed Kamel; Saeed, Ayman Moustafa

    2015-02-01

    This study aimed to investigate the effect of melatonin supplementation at different levels in culture medium on embryo development in rabbits. Embryos of 2-4 cells, 8-16 cells and morula stages were recovered from nulliparous Red Baladi rabbit does by laparotomy technique 24, 48 and 72 h post-insemination, respectively. Normal embryos from each stage were cultured to hatched blastocyst stages in either control culture medium (TCM-199 + 20% fetal bovine serum) or control supplemented with melatonin at 10(-3) M, 10(-6) M or 10(-9) M. No effect of melatonin was found on development of embryos recovered at 24 h post-insemination. The high level of melatonin at 10(-3) M adversely affected the in vitro development rates of embryos recovered at 48 h post-insemination (52 versus 86, 87 and 80% blastocyst rate; 28 versus 66, 78 and 59% hatchability rate for 10(-3) M versus 10(-9) M, 10(-6) M and control, respectively, P< 0.05). At the morula stage, melatonin at 10-3 M significantly increased the in vitro development of embryos (92% for 10(-3) M versus 76% for control, P < 0.05), while the hatchability rate of these embryos was not improved by melatonin (16-30% versus 52% for melatonin groups versus control, P < 0.05). Results show that a moderate level of melatonin (10(-6) M) may improve the development and hatchability rates of preimplantation rabbit embryos. The addition of melatonin at a 10-3 M concentration enhances the development of rabbit morulae but may negatively affect the development of earlier embryos. More studies are needed to optimize the use of melatonin in in vitro embryo culture in rabbits.

  6. Preimplantation genetic diagnosis outcomes and meiotic segregation analysis of robertsonian translocation carriers.

    Science.gov (United States)

    Ko, Duck Sung; Cho, Jae Won; Lee, Hyoung-Song; Kim, Jin Yeong; Kang, Inn Soo; Yang, Kwang Moon; Lim, Chun Kyu

    2013-04-01

    To investigate the meiotic segregation patterns of cleavage-stage embryos from robertsonian translocation carriers and aneuploidy of chromosome 18 according to meiotic segregation patterns. Retrospective study. Infertility center and laboratory of reproductive biology and infertility. Sixty-two couples with robertsonian translocation carriers. One blastomere was biopsied from embryos and diagnosed with the use of fluorescence in situ hybridization (FISH). Translocation chromosomes were analyzed with the use of locus-specific and subtelomeric FISH probes. Aneuploidy of chromosome 18 was assessed simultaneously with translocation chromosomes. Preimplantation genetic diagnosis (PGD) outcomes, meiotic segregation patterns of robertsonian translocation, and aneuploidy of chromosome 18 depending on meiotic segregation patterns. Two hundred seventy embryos of 332 transferrable embryos were transferred in 113 cycles, and 27 healthy babies were born. The alternate segregation was significantly higher in male carriers than in female carriers (43.9% vs. 29.9%, respectively), and adjacent segregation was higher in female carriers than in male carriers (44.7% vs. 38.7%, respectively). Aneuploidy of chromosome 18 was significantly increased in 3:0-segregated or chaotic embryos. Forty-seven alternate embryos were excluded from embryo replacement owing to aneuploidy of chromosome 18. In carriers of robertsonian translocation, meiotic segregation showed differences between men and women. Frequent meiotic errors caused by premature predivision or nondisjunction and less stringent checkpoint in women might cause such differences between sexes. Aneuploidy of chromosome 18 might be influenced by meiotic segregation of translocation chromosomes. Factors that cause malsegregation, such as 3:0 or chaotic segregation, seem to play a role in aneuploidy of chromosome 18. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Swift, Oscar; Vilar, Enric; Rahman, Belinda; Side, Lucy; Gale, Daniel P

    2016-12-01

    No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units. Thirty-eight patients had ESRF and 58 had CKD stages I-IV. Participants were given an information sheet on prenatal diagnosis and PGD and subsequently completed a questionnaire. The median age of participants was 51.5 years. Seventeen percent of ADPKD patients with CKD and 18% of ADPKD patients with ESRF would consider prenatal diagnosis and termination of pregnancy for ADPKD. Fifty percent with CKD would have opted for PGD (or might consider it in the future) were it available and funded by the UK National Health Service, compared to 63% in the ESRF group (p = 0.33). Sixty-nine percent in the CKD group and 68% in the ESRF group believed that PGD should be offered to other patients. There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes.

  8. Identification of novel microsatellite markers preimplantation genetic diagnosis of beta-thalassemia.

    Science.gov (United States)

    Chen, Min; Tan, Arnold S C; Cheah, Felicia S H; Saw, Eugene E L; Chong, Samuel S

    2015-12-01

    Beta (β)-thalassemia is one of the most common monogenic diseases worldwide. Affected pregnancies can be avoided through preimplantation genetic diagnosis (PGD), which commonly involves customized assays to detect the different combinations of β-globin (HBB) gene mutations present in couples, in conjunction with linkage analysis of flanking microsatellite markers. Currently, the limited number of reported closely linked markers hampers their utility in indirect linkage-based PGD for this disorder. To increase the available markers closely flanking the HBB gene, an in silico search was performed to identify all markers within 1 Mb flanking the HBB gene. Fifteen markers with potentially high polymorphism information content (PIC) and heterozygosity values were selected and optimized into a single-tube pentadecaplex PCR panel. Allele frequencies and polymorphism and heterozygosity indices of each marker were assessed in five populations. A total of 238 alleles were observed from the 15 markers. PIC was >0.7 for all markers, with expected heterozygosity and observed heterozygosity values ranging from 0.74 to 0.90 and 0.72 to 0.88, respectively. Greater than 99% of individuals were heterozygous for at least seven markers, with at least two heterozygous markers on either side of the HBB gene. The pentadecaplex marker assay also performed reliably on single cells either directly or after whole genome amplification, thus validating its use in standalone linkage-based β-thalassemia PGD or in conjunction with HBB mutation detection. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  9. First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration.

    Science.gov (United States)

    Trachoo, Objoon; Satirapod, Chonthicha; Panthan, Bhakbhoom; Sukprasert, Matchuporn; Charoenyingwattana, Angkana; Chantratita, Wasun; Choktanasiri, Wicharn; Hongeng, Suradej

    2017-01-01

    We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification. Genetic status of the embryos was diagnosed by linkage analysis and direct mutation testing using primer extension-based mini-sequencing. Comprehensive chromosomal aneuploidy screening was performed using a next-generation sequencing-based strategy. Only a single cycle of ICSI-IVF was processed. There were seven embryos from this couple-two were likely affected, three were likely carriers, one was likely unaffected, and one failed in target genome amplification. Aneuploidy screening was performed before making a decision on embryo transfer, and only one unaffected embryo passed the screening. That embryo was transferred in a frozen thawed cycle, and the pregnancy was successful. The diagnosis was confirmed by amniocentesis, which presented with a result consistent with PGD. At 38 weeks of gestational age, a healthy male baby was born. Postnatal genetic confirmation was also consistent with PGD and the prenatal results. At the age of 24 months, the baby presented with normal growth and development lacking any neurological symptoms. We report the first successful trial of PGD for PKAN in a developing country using linkage analysis and mini-sequencing in cleavage stage embryos.

  10. Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy.

    Science.gov (United States)

    Ren, Yixin; Zhi, Xu; Zhu, Xiaohui; Huang, Jin; Lian, Ying; Li, Rong; Jin, Hongyan; Zhang, Yan; Zhang, Wenxin; Nie, Yanli; Wei, Yuan; Liu, Zhaohui; Song, Donghong; Liu, Ping; Qiao, Jie; Yan, Liying

    2016-09-20

    Conventional PCR methods combined with linkage analysis based on short tandem repeats (STRs) or Karyomapping with single nucleotide polymorphism (SNP) arrays, have been applied to preimplantation genetic diagnosis (PGD) for spinal muscular atrophy (SMA), an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wild-type embryos with carriers effectively. Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) is a new method allowing embryo selection by a one-step next-generation sequencing (NGS) procedure, which has been applied in PGD for both autosome dominant and X-linked diseases in our group previously. In this study, we carried out PGD based on MARSALA for two carrier families with SMA affected children. As a result, one of the couples has given birth to a healthy baby free of mutations in SMA-causing gene. It is the first time that MARSALA was applied to PGD for SMA, and we can distinguish the embryos with heterozygous deletion (carriers) from the wild-type (normal) ones accurately through this NGS-based method. In addition, direct mutation detection allows us to identify the affected embryos (homozygous deletion), which can be regarded as probands for linkage analysis, in case that the affected family member is absent. In the future, the NGS-based MARSALA method is expected to be used in PGD for all monogenetic disorders with known pathogenic gene mutation. Copyright © 2016 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.

  11. Preferential selection and transfer of euploid noncarrier embryos in preimplantation genetic diagnosis cycles for reciprocal translocations.

    Science.gov (United States)

    Wang, Li; Shen, Jiandong; Cram, David S; Ma, Minyue; Wang, Hui; Zhang, Wenke; Fan, Junmei; Gao, Zhiying; Zhang, Liwen; Li, Zhifeng; Xu, Mengnan; Leigh, Don A; Trounson, Alan O; Liu, Jiayin; Yao, Yuanqing

    2017-10-01

    To develop and validate a new strategy to distinguish between balanced/euploid carrier and noncarrier embryos in preimplantation genetic diagnosis (PGD) cycles for reciprocal translocations and to successfully achieve a live birth after selective transfer of a noncarrier embryo. Retrospective and prospective study. In vitro fertilization (IVF) units. Eleven patients undergoing mate pair sequencing for identification of translocation breakpoints, followed by clinical PGD cycles. Embryo biopsy with 24-chromosome testing to determine carrier status of balanced/euploid embryos. Definition of translocation breakpoints and polymerase chain reaction (PCR) diagnostic primers, correct diagnosis of euploid embryos for carrier status, and a live birth with a normal karyotype after transfer of a noncarrier embryo. In 9 of 11 patients (82%), translocation breakpoints were successfully identified. In four patients with a term PGD pregnancy established with a balanced/euploid embryo of unknown carrier status, the correct carrier status was retrospectively determined, matching with the cytogenetic karyotype of the resulting newborns. In a prospective PGD cycle undertaken by a patient with a 46,XY,t(7;14)(q22;q24.3) translocation, the four balanced/euploid embryos identified comprised three carriers and one noncarrier. Transfer of the noncarrier embryo resulted in birth of a healthy girl who was subsequently confirmed with a normal 46,XX karyotype. The combination of mate pair sequencing and PCR breakpoint analysis of balanced reciprocal translocation derivatives is a novel, reliable, and accurate strategy for distinguishing between carrier and noncarrier balanced/euploid embryos. The method has potential application in clinical PGD cycles for patients with reciprocal translocations or other structural rearrangements. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  12. Is there an ethical difference between preimplantation genetic diagnosis and abortion?

    Science.gov (United States)

    Cameron, C; Williamson, R

    2003-04-01

    When a person at risk of having a child with a genetic illness or disease wishes to have an unaffected child, this can involve difficult choices. If the pregnancy is established by sexual intercourse, the fetus can be tested early in pregnancy, and if affected a decision can be made to abort in the hope that a future pregnancy with an unaffected fetus ensures. Alternatively, preimplantation genetic diagnosis (PGD) can be used after in vitro fertilisation (IVF) to select and implant an unaffected embryo that hopefully will proceed to term and produce a healthy baby. We are aware that many individuals at risk regard the latter as ethically more acceptable than the former, and examine whether there is an ethical difference between these options. We conclude that PGD and implantation of an unaffected embryo is a more acceptable choice ethically than prenatal diagnosis (PND) followed by abortion for the following reasons: Choice after PGD is seen as ethically neutral because a positive result ("a healthy pregnancy") balances a negative result ("the destruction of the affected embryo") simultaneously (assuming the pregnancy proceeds to full term and a healthy baby is born). While there is usually the intention to establish a healthy pregnancy after an abortion, this is not simultaneous; A woman sees abortion as a personal physical violation of her integrity, and as the pregnancy proceeds she increasingly identifies with and gives ethical status to the embryo/fetus as it develops in utero and not in the laboratory; Many people see aborting a fetus as "killing", whereas in the case of PGD the spare embryos are "allowed to die". We argue that this difference of opinion gives further weight to our conclusion, but note that this has been addressed and debated at length by others.

  13. Effects of heat stress on bovine preimplantation embryos produced in vitro.

    Science.gov (United States)

    Sakatani, Miki

    2017-08-19

    Summer heat stress decreases the pregnancy rate in cattle and has been thought to be associated with the early embryonic death caused by the elevation of maternal body temperature. In vitro cultures have been widely used for the evaluation of effects of heat stress on oocytes, fertilization, preimplantation, and embryonic development. Susceptibility to heat stress is present in developmental stages from oocytes to cleavage-stage (before embryonic gene activation, EGA) embryos, leading to a consequent decrease in developmental competence. On the other hand, advanced-stage embryos such as morula or blastocysts have acquired thermotolerance. The mechanism for the developmental stage-dependent change in thermotolerance is considered to be the accumulation of antioxidants in embryos in response to heat-inducible production of reactive oxygen species. The supplementation of antioxidants to the culture media has been known to neutralize the detrimental effects of heat stress. Besides, EGA could be involved in acquisition of thermotolerance in later stages of embryos. Morulae or blastocysts can repair heat-induced unfolded proteins or prevent DNA damage occurring in processes such as apoptosis. Therefore, embryo transfer (ET) that can bypass the heat-sensitive stage could be a good solution to improve the pregnancy rate under heat stress. However, frozen-thawed ET could not improve the pregnancy rate as expected. Frozen-thawed blastocysts were more sensitive to heat stress and showed less proliferation upon heat exposure, compared to fresh blastocysts. Therefore, further research is required to improve the reduction in pregnancy rates due to summer heat stress.

  14. High risk men's perceptions of pre-implantation genetic diagnosis for hereditary breast and ovarian cancer.

    Science.gov (United States)

    Quinn, Gwendolyn P; Vadaparampil, Susan T; Miree, Cheryl A; Lee, Ji-Hyun; Zhao, Xiuhua; Friedman, Susan; Yi, Susan; Mayer, James

    2010-10-01

    Pre-implantation genetic diagnosis (PGD) is an assisted reproductive technology procedure which provides parents with the option of conducting genetic analyses to determine if a mutation is present in an embryo. Though studies have discussed perceptions of PGD from a general population, couples or high-risk women, no studies to date have specifically examined PGD usage among men. This study sought to explore perceptions and attitudes towards PGD among males who either carry a BRCA mutation or have a partner or first degree relative with a BRCA mutation. A cross-sectional survey was conducted among 228 men visiting the Facing Our Risk of Cancer Empowered or Craigslist website. Eligibility criteria included men who self-reported they had been tested for a BRCA mutation or had a partner or first degree relative tested for a BRCA mutation. A 41-item survey assessed socio-demographic, clinical characteristics, PGD knowledge and attitudinal factors and consideration of the use of PGD. Differences in proportions of subgroups were tested using the Monte Carlo exact test for categorical data. A multiple logistic regression model was then built through a backward elimination procedure. Although 80% of men reported being previously unfamiliar with PGD, after learning the definition of PGD, 34% of the 228 respondents then said they would 'ever consider the use of PGD'. Respondents who thought of PGD only in terms of 'health and safety' were almost three times more likely (OR = 2.82; 95% 1.19-6.71) to 'ever consider the use of PGD' compared with respondents who thought of PGD in terms of both 'health and safety', and 'religion and morality'. As with other anonymous web-based surveys, we cannot verify clinical characteristics that may impact consideration of PGD use. Our findings indicate high-risk men need more information about PGD and may benefit from educational materials to assist them in reproductive decision-making.

  15. Problem Periods

    Science.gov (United States)

    ... ovary syndrome. Read our information on PCOS for teens , and see your doctor if you think you may have PCOS. Major weight loss. Girls who have anorexia will often stop having periods. When to see ...

  16. Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Alexander Ioscovich

    2013-01-01

    Full Text Available Purpose: To date, there has been no comparison of outcomes in women undergoing anesthesia for in vitro fertilization (IVF oocyte retrieval for the purpose of pre-implantation genetic diagnosis (PGD because of their or their partner′s genetic disease relative to the outcome in women requiring IVF because of fertility issues. Materials and Methods: A prospective observational study, wherein all demographic and anesthetic management data were collected from IVF and PGD units′ records for a 6-month period. Descriptive analyses and parametric tests were employed. Results: There were 307 cases IVF and 76 cases PGD: most (97.4% and 99.7%, respectively received general anesthesia with propofol and fentanyl ± dipyrone (90.5% and 93.3%, respectively with no adverse effects. The only statistically significant difference between IVF and PGD groups that was potentially clinically significant was post-procedure recovery time (23.0 ± 20.4 vs. 29.4 ± 35.8 min, respectively; P < 0.0001, but is explainable as greater caution by Anesthesiologists for higher-risk PGD cases having autosomal dominant diseases that may impact anesthesia management (myotonic dystrophy, neurofibromatosis, Marfan′s; two of these cases also recovered in the general post-anesthesia care unit, as a precaution for early diagnosis and treatment of potential post-procedural complication. Conclusions: Results of this first-ever survey of anesthesia for PGD compared with IVF cases imply that propofol-and-fentanyl-based anesthesia is safe and can be recommended, bearing in mind that with patients who have autosomal dominant diseases impacting anesthetic management it is prudent to be more cautious post-recovery.

  17. Effect of early addition of bone morphogenetic protein 5 (BMP5) to embryo culture medium on in vitro development and expression of developmentally important genes in bovine preimplantation embryos.

    Science.gov (United States)

    García, Elina V; Miceli, Dora C; Rizo, Gabriela; Valdecantos, Pablo A; Barrera, Antonio D

    2015-09-01

    Previous studies have reported that bone morphogenetic protein 5 (BMP5) is differentially expressed in the isthmus of bovine oviducts and it is present in the oviductal fluid. However, the specific action of this factor is unknown. To evaluate whether BMP5 exerts some effect during early bovine embryo development, gene expression of BMP5, BMP receptors, and the effect of exogenous BMP5 on in vitro development and expression of developmentally important genes were assessed. In experiment 1, pools of embryos at two-cell, four-cell, eight-cell, and blastocyst stages, derived from in vitro fertilization, were collected for analysis of BMP5 and BMP receptors (BMPR1A, BMPR1B, and BMPR2) messenger RNA (mRNA) expression. On the basis of previous results, in experiment 2, presumptive zygotes were cultured for the first 48 hours after insemination in CR1aa medium assaying three different treatments: (1) control (CR1aa); (2) vehicle control (CR1aa + 0.04 mM HCl), and (3) BMP5 treatment (CR1aa + 100 ng/mL of BMP5). The cleavage rate was evaluated 48 hours after insemination (Day 2), and then, embryos were transferred to CR1aa + 10% fetal bovine serum. The blastocyst rate was determined on Day 7. In experiment 3, pools of embryos at two-cell, four-cell, eight-cell, and blastocyst stages, derived from control and BMP5-treated groups, were collected for analysis of ID2 (BMP target gene), OCT4, NANOG, and SOX2 (pluripotency genes) mRNA expression. BMP5 transcripts were not detectable in any of the embryonic stages examined, whereas the relative mRNA abundance of the three BMP receptors analyzed was greater in early embryo development stages before maternal-embryonic transition, raising the possibility of a direct effect of exogenous BMPs on the embryo during the first developmental period. Although early addition of 100 ng/mL of BMP5 to the embryo culture medium had no effect on the cleavage rate, a significantly higher proportion of cleaved embryos developed to the

  18. Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.

    Science.gov (United States)

    Yahalom, Claudia; Macarov, Michal; Lazer-Derbeko, Galit; Altarescu, Gheona; Imbar, Tal; Hyman, Jordana H; Eldar-Geva, Talia; Blumenfeld, Anat

    2018-05-21

    In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease. Each family underwent genetic testing in order to identify the underlying disease-causing mutation. IVF and PGD treatment were performed; unaffected embryos were implanted in their respective mothers. Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 families each); and Hermansky-Pudlak syndrome, Leber congenital amaurosis, Norrie disease, papillorenal syndrome, primary congenital cataract, congenital glaucoma, Usher syndrome type 1F, and microphthalmia with coloboma (1 family each). Following a total of 88 PGD cycles, 18 healthy (i.e., unaffected) children were born. Our findings underscore the importance an ophthalmologist plays in informing patients regarding the options now available for using prenatal and preimplantation genetic diagnosis to avoid having a child with a potentially devastating genetic form of eye disease or ocular cancer. This strategy is highly relevant, particularly given the limited options currently available for treating these conditions.

  19. Site-specific modification of genome with cell-permeable Cre fusion protein in preimplantation mouse embryo

    International Nuclear Information System (INIS)

    Kim, Kyoungmi; Kim, Hwain; Lee, Daekee

    2009-01-01

    Site-specific recombination (SSR) by Cre recombinase and its target sequence, loxP, is a valuable tool in genetic analysis of gene function. Recently, several studies reported successful application of Cre fusion protein containing protein transduction peptide for inducing gene modification in various mammalian cells including ES cell as well as in the whole animal. In this study, we show that a short incubation of preimplantation mouse embryos with purified cell-permeable Cre fusion protein results in efficient SSR. X-Gal staining of preimplantation embryos, heterozygous for Gtrosa26 tm1Sor , revealed that treatment of 1-cell or 2-cell embryos with 3 μM of Cre fusion protein for 2 h leads to Cre-mediated excision in 70-85% of embryos. We have examined the effect of the concentration of the Cre fusion protein and the duration of the treatment on embryonic development, established a condition for full term development and survival to adulthood, and demonstrated the germ line transmission of excised Gtrosa26 allele. Potential applications and advantages of the highly efficient technique described here are discussed.

  20. Molecular analysis of radiation-induced albino (c)-locus mutations that cause death at preimplantation stages of development

    International Nuclear Information System (INIS)

    Rinchik, E.M.; Toenjes, R.R.; Paul, D.; Potter, M.D.

    1993-01-01

    Deletion mutations at the albino (c) locus have been useful for continuing the development of fine-structure physical and functional maps of the Fes-Hbb region of mouse chromosome 7. This report describes the molecular analysis of a number of radiation-induced c deletions that, when homozygous, cause death of the embryo during preimplantation stages. The distal extent of these deletions defines a locus, pid, (preimplantation development) genetically associated with this phenotype. The proximal breakpoints of eight of these deletions were mapped with respect to the Tyr (tyrosinase; albino) gene as well as to anonymous loci within the Fah-Tyr region that are defined by the Pmv-31 viral integration site and by chromosome-microdissection clones. Rearrangements corresponding to the proximal breakpoints of two of these deletions were detected by Southern blot analysis, and a size-altered restriction fragment carrying the breakpoint of one of them was cloned. A probe derived from this deletion fusion fragment defines a locus, D7Rn6, which maps within (or distal to) the pid region, and which discriminates among the distal extents of deletions eliciting the pid phenotype. Extension of physical maps from D7Rn6 should provide access both to the pid region and to loci mapping distal to pid that are defined by N-ethyl-N-nitrosourea-induced lethal mutations. 36 refs., 10 figs

  1. Pre-implantation genetic screening using fluorescence in situ hybridization in couples of Indian ethnicity: Is there a scope?

    Directory of Open Access Journals (Sweden)

    Shailaja Gada Saxena

    2014-01-01

    Full Text Available Context: There is a high incidence of numerical chromosomal aberration in couples with repeated in vitro fertilization (IVF failure, advanced maternal age, repeated unexplained abortions, severe male factor infertility and unexplained infertility. Pre-implantation genetic screening (PGS, a variant of pre-implantation genetic diagnosis, screens numerical chromosomal aberrations in couples with normal karyotype, experiencing poor reproductive outcome. The present study includes the results of the initial pilot study on 9 couples who underwent 10 PGS cycles. Aim: The aim of the present study was to evaluate the beneficial effects of PGS in couples with poor reproductive outcome. Settings and Design: Data of initial 9 couples who underwent 10 PGS for various indications was evaluated. Subjects and Methods: Blastomere biopsy was performed on cleavage stage embryos and subjected to two round fluorescence in situ hybridization (FISH testing for chromosomes 13, 18, 21, X and Y as a two-step procedure. Results: Six of the 9 couples (10 PGS cycles conceived, including a twin pregnancy in a couple with male factor infertility, singleton pregnancies in a couple with secondary infertility, in three couples with adverse obstetric outcome in earlier pregnancies and in one couple with repeated IVF failure. Conclusion: In the absence of availability of array-comparative genomic hybridization in diagnostic clinical scenario for PGS and promising results with FISH based PGS as evident from the current pilot study, it is imperative to offer the best available services in the present scenario for better pregnancy outcome for patients.

  2. Expression of Aquaporins in Human Embryos and Potential Role of AQP3 and AQP7 in Preimplantation Mouse Embryo Development

    Directory of Open Access Journals (Sweden)

    Yun Xiong

    2013-05-01

    Full Text Available Background/Aims: Water channels, also named aquaporins (AQPs, play crucial roles in cellular water homeostasis. Methods: RT-PCR indicated the mRNA expression of AQPs 1-5, 7, 9, and 11-12, but not AQPs 0, 6, 8, and 10 in the 2∼8-cell stage human embryos. AQP3 and AQP7 were further analyzed for their mRNA expression and protein expression in the oocyte, zygote, 2-cell embryo, 4-cell embryo, 8-cell embryo, morula, and blastocyst from both human and mouse using RT-PCR and immunofluorescence, respectively. Results: AQP3 and AQP7 were detected in all these stages. Knockdown of either AQP3 or AQP7 by targeted siRNA injection into 2-cell mouse embryos significantly inhibited preimplantation embryo development. However, knockdown of AQP3 in JAr spheroid did not affect its attachment to Ishikawa cells. Conclusion: These data demonstrate that multiple aquaporins are expressed in the early stage human embryos and that AQP3 and AQP7 may play a role in preimplantation mouse embryo development.

  3. ROCK and RHO Playlist for Preimplantation Development: Streaming to HIPPO Pathway and Apicobasal Polarity in the First Cell Differentiation.

    Science.gov (United States)

    Alarcon, Vernadeth B; Marikawa, Yusuke

    2018-01-01

    In placental mammalian development, the first cell differentiation produces two distinct lineages that emerge according to their position within the embryo: the trophectoderm (TE, placenta precursor) differentiates in the surface, while the inner cell mass (ICM, fetal body precursor) forms inside. Here, we discuss how such position-dependent lineage specifications are regulated by the RHOA subfamily of small GTPases and RHO-associated coiled-coil kinases (ROCK). Recent studies in mouse show that activities of RHO/ROCK are required to promote TE differentiation and to concomitantly suppress ICM formation. RHO/ROCK operate through the HIPPO signaling pathway, whose cell position-specific modulation is central to establishing unique gene expression profiles that confer cell fate. In particular, activities of RHO/ROCK are essential in outside cells to promote nuclear localization of transcriptional co-activators YAP/TAZ, the downstream effectors of HIPPO signaling. Nuclear localization of YAP/TAZ depends on the formation of apicobasal polarity in outside cells, which requires activities of RHO/ROCK. We propose models of how RHO/ROCK regulate lineage specification and lay out challenges for future investigations to deepen our understanding of the roles of RHO/ROCK in preimplantation development. Finally, as RHO/ROCK may be inhibited by certain pharmacological agents, we discuss their potential impact on human preimplantation development in relation to fertility preservation in women.

  4. When Every Day Is Professional Development Day

    Science.gov (United States)

    Tienken, Christopher H.; Stonaker, Lew

    2007-01-01

    In the Monroe Township (New Jersey) Public Schools, teachers' learning occurs daily, not just on one day in October and February. Central office and school-level administrators foster job-embedded teacher growth. Every day is a professional development day in the district, but that has not always been so. How did the district become a system with…

  5. Significance of buccopalatal implant position, biotype, platform switching, and pre-implant bone augmentation on the level of the midbuccal mucosa

    NARCIS (Netherlands)

    Zuiderveld, Elise G; den Hartog, Laurens; Vissink, Arjan; Raghoebar, Gerry M; Meijer, Henny J A

    2014-01-01

    This study assessed whether buccopalatal implant position, biotype, platform switching, and pre-implant bone augmentation affects the level of the midbuccal mucosa (MBM). Ninety patients with a single-tooth implant in the esthetic zone were included. The level of the MBM was measured on photographs

  6. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome : preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  7. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome: preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  8. Mental, psychomotor, neurologic, and behavioral outcomes of 2-year-old children born after preimplantation genetic screening : follow-up of a randomized controlled trial

    NARCIS (Netherlands)

    Middelburg, Karin J.; van der Heide, Maaike; Houtzager, Bregje; Pereboom, Marjolein; Fidler, Vaclav; Bos, Arend F.; Kok, Joke; Hadders-Algra, Mijna

    Objective: To evaluate the effect of preimplantation genetic screening (PGS) on neurodevelopmental outcomes in children. Design: Prospective, assessor-blinded, follow-up study of children born to women randomly assigned to in vitro fertilization or intracytoplasmic sperm injection (IVF/ICSI) with or

  9. Preimplantation genetic diagnosis for aneuploidy testing in women older than 44 years: a multicenter experience.

    Science.gov (United States)

    Ubaldi, Filippo Maria; Cimadomo, Danilo; Capalbo, Antonio; Vaiarelli, Alberto; Buffo, Laura; Trabucco, Elisabetta; Ferrero, Susanna; Albani, Elena; Rienzi, Laura; Levi Setti, Paolo E

    2017-05-01

    To report laboratory and clinical outcomes in preimplantation genetic diagnosis for aneuploidies (PGD-A) cycles for women 44 to 47 years old. Multicenter, longitudinal, observational study. In vitro fertilization (IVF) centers. One hundred and thirty-seven women aged 44.7 ± 0.7 years (range: 44.0-46.7) undergoing 150 PGD-A cycles during April 2013 to January 2016. Quantitative polymerase chain reaction-based PGD-A on trophectoderm biopsies and cryopreserved euploid single-embryo transfer (SET). Primary outcome measure: delivery rate per cycle; secondary outcome measures: miscarriage rate, and the rate and reasons for cycle cancelation with subanalyses for female age and number of metaphase 2 oocytes retrieved. In 102 (68.0%) of 150 cycles blastocyst development was obtained, but only 21 (14.0%) were euploid blastocysts. The overall euploidy rate was 11.8% (22 of 187). Twenty-one SET procedures were performed, resulting in 13 clinical pregnancies, of which 1 miscarried and 12 delivered. The delivery rate was 57.1% per transfer, 8.0% per cycle, and 8.8% per patient. The logistic regression analysis found that only female age (odds ratio 0.78) and number of metaphase 2 oocytes retrieved (odds ratio 1.25) statistically significantly correlated with the likelihood of delivery. The delivery rate per cycle was 10.6% (11 of 104) in patients aged 44.0 to 44.9 years and 2.6% in patients aged 45.0 to 45.9 years (n = 1 of 38). No euploid blastocysts were found for patients older than 45.0 years. Extensive counseling based on biological and clinical data should be provided to women older than 43 years who are requesting IVF because of their very low odds of success and high risk for embryonic aneuploidies. Nevertheless, the low miscarriage and good delivery rates reported in this study in women with good ovarian reserve aged 44 should encourage the use of PGD-A in this population. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc

  10. Preimplantation diagnosis: efficient tool for human leukocyte antigen matched bone marrow transplantation for thalassemia

    Directory of Open Access Journals (Sweden)

    Anver Kuliev

    2011-08-01

    Full Text Available Thalassemia is among the most frequent indications for preimplantation genetic diagnosis (PGD to allow at risk couples reproducing without fear of having an affected child. In addition, those already having the affected child, have also the option to produce an unaffected offspring that may be also a complete human leukocyte antigen (HLA match to affected child to ensure successful bone marrow transplantation. We present here the results of retrospective analysis of 293 PGD cycles for thalassemia, including 144cases of simultaneous HLA typing, resulting in birth of 70 thalassemia-free children and 12 unaffected HLA matched ones, providing their cord blood and/or bone marrow for transplantation treatment of their affected siblings. The present overall experience includes successful cord blood or bone marrow transplantation in more than three dozens of cases with HLA matched stem cells obtained from children born after PGD, demonstrating that PGD is an efficient approach for improving success of bone marrow transplantation treatment for thalassemia.   植入前遗传学诊断(PGD)是地中海贫血(地贫)最常用的疗法,该病患者夫妇无须担心孕儿受到感染。此外,如果已经怀上受到感染的宝宝,他们也可有选择性再生育一个未受感染的后代,提供完全匹配的HLA,来确保骨髓成功移植。本文将提供293个地贫病例的PGD周期诊断结果,包括144例HLA同时配型,有70例宝宝无地贫出生和12例未受感染的HLA配型宝宝出生。将这些健康宝宝的脐带血和/或骨髓取出以完成对他们同胞的移植手术,通过使用经诊断后的,出生宝宝身上取出的HLA配型干细胞,成功完成36例宝宝的脐带或骨髓移植手术。结果表明PGD能有效提高地贫患儿骨髓移植手术的成功率。

  11. Technical aspects of the integration of three-dimensional treatment planning dose parameters (GEC-ESTRO Working Group) into pre-implant planning for LDR gynecological interstitial brachytherapy.

    Science.gov (United States)

    Chi, A; Gao, M; Nguyen, N P; Albuquerque, K

    2009-06-01

    This study investigates the technical feasibility of pre-implant image-based treatment planning for LDR GYN interstitial brachytherapy(IB) based on the GEC-ESTRO guidelines. Initially, a virtual plan is generated based on the prescription dose and GEC-ESTRO defined OAR dose constraints with a pre-implant CT. After the actual implant, a regular diagnostic CT was obtained and fused with our pre-implant scan/initial treatment plan in our planning software. The Flexi-needle position changes, and treatment plan modifications were made if needed. Dose values were normalized to equivalent doses in 2 Gy fractions (LQED 2 Gy) derived from the linear-quadratic model with alpha/beta of 3 for late responding tissues and alpha/beta of 10 for early responding tissues. D(90) to the CTV, which was gross tumor (GTV) at the time of brachytherapy with a margin to count for microscopic disease, was 84.7 +/- 4.9% of the prescribed dose. The OAR doses were evaluated by D(2cc) (EBRT+IB). Mean D(2cc) values (LQED(2Gy)) for the rectum, bladder, sigmoid, and small bowel were the following: 63.7 +/- 8.4 Gy, 61.2 +/- 6.9 Gy, 48.0 +/- 3.5 Gy, and 49.9 +/- 4.2 Gy. This study confirms the feasibility of applying the GEC-ESTRO recommended dose parameters in pre-implant CT-based treatment planning in GYN IB. In the process, this pre-implant technique also demonstrates a good approximation of the target volume dose coverage, and doses to the OARs.

  12. The environmental toxicant 2,3,7,8-tetrachlorodibenzo-p-dioxin disrupts morphogenesis of the rat pre-implantation embryo

    Directory of Open Access Journals (Sweden)

    Albertini David F

    2008-01-01

    Full Text Available Abstract Background Environmental toxicants, whose actions are often mediated through the aryl hydrocarbon receptor (AhR pathway, pose risks to the health and well-being of exposed species, including humans. Of particular concern are exposures during the earliest stages of development that while failing to abrogate embryogenesis, may have long term effects on newborns or adults. The purpose of this study was to evaluate the effect of maternal exposure to the AhR-specific ligand 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD on the development of rat pre-implantation embryos with respect to nuclear and cytoskeletal architecture and cell lineage allocation. Results We performed a systematic 3 dimensional (3D confocal microscopy analysis of rat pre-implantation embryos following maternal exposure to environmentally relevant doses of TCDD. Both chronic (50 ng/kg/wk for 3 months and acute (50 ng/kg and 1 μg/kg at proestrus maternal TCDD exposure disrupted morphogenesis at the compaction stage (8–16 cell, with defects including monopolar spindle formation, f-actin capping and fragmentation due to aberrant cytokinesis. Additionally, the size, shape and position of nuclei were modified in compaction stage pre-implantation embryos collected from treated animals. Notably, maternal TCDD exposure did not compromise survival to blastocyst, which with the exception of nuclear shape, were morphologically similar to control blastocysts. Conclusion We have identified the compaction stage of pre-implantation embryogenesis as critically sensitive to the effects of TCDD, while survival to the blastocyst stage is not compromised. To the best of our knowledge this is the first in vivo study to demonstrate a critical window of pre-implantation mammalian development that is vulnerable to disruption by an AhR ligand at environmentally relevant doses.

  13. Between Anzac Day and Waitangi Day

    Directory of Open Access Journals (Sweden)

    Czerwińska Anna

    2017-12-01

    Full Text Available This paper discusses the historical background and significance of the two most important national holidays in New Zealand: Waitangi Day and Anzac Day. Waitangi Day is celebrated on the 6th February and it commemorates the signing of the Treaty of Waitangi between British representatives and a number of Māori chiefs in 1840. Following the signing of the treaty New Zealand became effectively a British colony. Anzac Day is celebrated on 25th April, i.e., on the anniversary of the landing of soldiers of the Australian and New Zealand Army Corps (ANZAC on the Gallipoli peninsula in Turkey in 1915, during World War One. There are three major differences between these two holidays: the process of those days becoming national holidays, the level of contestation, and the changing messages they have carried. The present study analyzes the national discourse around Anzac Day and Waitangi Day in New Zealand, and attempts to reveal how the official New Zealand government rhetoric about national unity becomes deconstructed. The following analysis is based on a selection of online articles from the New Zealand Herald and Stuff published in Auckland and Wellington, respectively. Both cities are populated by multi-ethnic groups, with Auckland featuring the largest Māori population.

  14. Selecting "saviour siblings": reconsidering the regulation in Australia of pre-implantation genetic diagnosis in conjunction with tissue typing.

    Science.gov (United States)

    Taylor-Sands, Michelle

    2007-05-01

    In recent years, pre-implantation genetic diagnosis (PGD) has been developed to enable the selection of a tissue type matched "saviour sibling" for a sick child. This article examines the current regulatory framework governing PGD in Australia. The availability of PGD in Australia to create a saviour sibling depends on the regulation of ART services by each State and Territory. The limitations on the use of PGD vary throughout Australia, according to the level of regulation of ART in each jurisdiction. This article considers the limitations on the use of PGD for tissue typing in Australia and argues that some of these should be removed for a more consistent national approach. In particular, the focus in ART legislation on the "paramount interests" of the child to be born is inappropriate for the application of tissue typing, which necessarily involves the interests of other family members.

  15. Igf1r signaling is indispensable for preimplantation development and is activated via a novel function of E-cadherin.

    Directory of Open Access Journals (Sweden)

    Ivan Bedzhov

    Full Text Available Insulin-like growth factor I receptor (Igf1r signaling controls proliferation, differentiation, growth, and cell survival in many tissues; and its deregulated activity is involved in tumorigenesis. Although important during fetal growth and postnatal life, a function for the Igf pathway during preimplantation development has not been described. We show that abrogating Igf1r signaling with specific inhibitors blocks trophectoderm formation and compromises embryo survival during murine blastocyst formation. In normal embryos total Igf1r is present throughout the membrane, whereas the activated form is found exclusively at cell contact sites, colocalizing with E-cadherin. Using genetic domain switching, we show a requirement for E-cadherin to maintain proper activation of Igf1r. Embryos expressing exclusively a cadherin chimera with N-cadherin extracellular and E-cadherin intracellular domains (NcEc fail to form a trophectoderm and cells die by apoptosis. In contrast, homozygous mutant embryos expressing a reverse-structured chimera (EcNc show trophectoderm survival and blastocoel cavitation, indicating a crucial and non-substitutable role of the E-cadherin ectodomain for these processes. Strikingly, blastocyst formation can be rescued in homozygous NcEc embryos by restoring Igf1r signaling, which enhances cell survival. Hence, perturbation of E-cadherin extracellular integrity, independent of its cell-adhesion function, blocked Igf1r signaling and induced cell death in the trophectoderm. Our results reveal an important and yet undiscovered function of Igf1r during preimplantation development mediated by a unique physical interaction between Igf1r and E-cadherin indispensable for proper receptor activation and anti-apoptotic signaling. We provide novel insights into how ligand-dependent Igf1r activity is additionally gated to sense developmental potential in utero and into a bifunctional role of adhesion molecules in contact formation and signaling.

  16. [The physician's role in various clinical contexts. Physician counseling on in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD)].

    Science.gov (United States)

    Kentenich, H; Tandler-Schneider, A

    2012-09-01

    The role of the physician in the context of in vitro fertilization and preimplantation genetic diagnosis has certain distinct characteristics. Involuntary childlessness by definition of the WHO is a disease with good treatment options. As it is not considered a medical emergency, the focus lies more on intensive information giving, education, and counseling. Because the diagnosis and treatment can be a medical and psychological strain for the couple, counseling should address both medical and psychological aspects. The physician needs to have detailed medical knowledge as well as good communication skills to be able to meet the specific needs of the couple. Moreover, the physician should point out the realistic success rates of treatment and should refer to alternatives, such as remaining childless, adoption, and sperm or egg donation. The concurrent inclusion of biological, psychological, social, and ethical aspects in terms of psychosomatic basic care (Psychosomatische Grundversorgung) seems to be useful. There is potential for conflicts, for example, due to the economic interests of the physician. On the other hand, the treatment can be a financial burden for the couple. Of importance are the physician's and the patient's moral concepts, especially concerning some aspects of therapy (sperm and egg donation, surrogacy). The expected welfare of the intended child should also be respected (e.g., higher risk of preterm birth in multiple pregnancies). Further possible conflicts in reproductive medicine arise because of the crossing of moral boundaries (oocyte donation for postmenopausal women, surrogacy, cloning of human beings). The framework of counseling is based on the guidelines of the German Medical Association (Bundesärztekammer) for assisted reproduction (2006). Preimplantation genetic diagnosis has special requirements from a medical and psychosocial point of view.

  17. Progress of Preimplantation Genetic Diagnosis%胚胎植入前遗传学诊断的新进展

    Institute of Scientific and Technical Information of China (English)

    李娜; 范俊梅; 刘忠宇; 尉春华

    2014-01-01

    胚胎植入前的遗传学检测包括植入前遗传学诊断(preimplantation genetic diagnosis,PGD)和植入前遗传学筛查(preimplantation genetic screening,PGS).PGD已在临床辅助生殖中应用20余年,其主要适应证为单基因疾病和遗传性染色体异常.PGS则是应用与PGD相同的技术,对植入前的胚胎进行染色体非整倍性的检测,选择最佳的胚胎予以移植,其适用于高龄(>35岁)、既往非整倍体妊娠、反复体外受精(IVF)失败、反复流产、严重的男性不育等因素导致的不孕不育.PGD有关的分析技术正日新月异地发展,微阵列比较基因组杂交技术、单核苷酸多态性微阵列技术等微阵列技术以及新一代测序技术已用于临床,卵裂球全基因组测序也即将成为可能.综述该领域的进展以及PGD/PGS的争议问题.

  18. Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.

    Science.gov (United States)

    Hao, Yan; Chen, Dawei; Zhang, Zhiguo; Zhou, Ping; Cao, Yunxia; Wei, Zhaolian; Xu, Xiaofeng; Chen, Beili; Zou, Weiwei; Lv, Mingrong; Ji, Dongmei; He, Xiaojin

    2018-04-01

    Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis. In one case, a couple had a 7-year-old daughter affected by non-syndromic sensorineural hearing loss. The affected fetus carried a causative compound heterozygous mutation c.919-2 A>G (IVS7-2 A>G) and c.1707+5 G>A (IVS15+5 G>A) of the solute carrier family 26 member 4 gene inherited from maternal and paternal sides, respectively. The present study applied multiple displacement amplification for whole genome amplification of biopsied trophectoderm cells and next-generation sequencing (NGS)-based single nucleotide polymorphism haplotyping on an Ion Torrent Personal Genome Machine. One unaffected embryo was transferred in a frozen-thawed embryo transfer cycle and the patient was impregnated. To conclude, to the best of our knowledge, this may be the first report of NGS-based preimplantation genetic diagnosis (PGD) for non-syndromic hearing loss caused by a compound heterozygous mutation using an Ion Torrent Personal Genome Machine. NGS provides unprecedented high-throughput, highly parallel and base-pair resolution data for genetic analysis. The method meets the requirements of medium-sized diagnostics laboratories. With decreased costs compared with previous techniques (such as Sanger sequencing), this technique may have potential widespread clinical application in PGD of other types of monogenic disease.

  19. Effect of variable scanning protocolson the pre-implant site evaluation of the mandible in reformatted computed tomography

    International Nuclear Information System (INIS)

    Kim, Kee Deog; Park, Chang Seo

    1999-01-01

    To evaluate the effect of variable scanning protocols of computed tomography for evaluation of pre-implant site of the mandible through the comparison of the reformatted cross-sectional images of helical CT scans obtained with various imaging parameters versus those of conventional CT scans. A dry mandible was imaged using conventional nonoverlapped CT scans with 1 mm slice thickness and helical CT scans with 1 mm slice thickness and pitches of 1.0, 1.5, 2.0, 2.5 and 3.0. All helical images were reconstructed at reconstruction interval of 1 mm. DentaScan reformatted images were obtained to allow standardized visualization of cross-sectional images of the mandible. The reformatted images were reviewed and measured separately by 4 dental radiologists. The image qualities of continuity of cortical outline, trabecular bone structure and visibility of the mandibular canal were evaluated and the distance between anatomic structures were measured by 4 dental radiologists. On image qualities of continuity of cortical outline, trabecular bone structure and visibility of the mandibular canal and in horizontal measurement, there was no statistically significant difference among conventional and helical scans with pitches of 1.0, 1.5 and 2.0. In vertical measurement, there was no statistically significant difference among the conventional and all imaging parameters of helical CT scans with pitches of 1.0, 1.5, 2.0, 2.5 and 3.0. The images of helical CT scans with 1 mm slice thickness and pitches of 1.0, 1.5 and 2.0 are as good as those of conventional CT scans with 1 mm slice thickness for evaluation of pre-dental implant site of the mandible. Considering the radiation dose and patient comfort, helical CT scans with 1 mm slice thickness and pitch of 2.0 is recommended for evaluation of pre-implant site of the mandible.

  20. CGH Supports World Cancer Day Every Day

    Science.gov (United States)

    We celebrate World Cancer Day every year on February 4th. This year the theme “We can. I can.” invites us to think not only about how we can work with one another to reduce the global burden of cancer, but how we as individuals can make a difference. Every day the staff at CGH work to establish and build upon programs that are aimed at improving the lives of people affected by cancer.

  1. The 10-day rule: a misnomer

    International Nuclear Information System (INIS)

    Mole, R.H.

    1984-01-01

    The option of restricting medical irradiation of women of reproductive age to the first 10 days of the menstrual cycle is discussed. The current ICRP proposal to abandon the 10-day option in diagnostic radiography is outlined and some reasons for this action by the ICRP are proposed, including the fact that the most sensitive period for radiation damage to the developing foetus brain is at 10-18 weeks after the first day of the last menstrual period. (U.K.)

  2. Modification of the 'ten-day rule'

    International Nuclear Information System (INIS)

    Klempfner, G.

    1985-01-01

    In a 1964 decision the National Health and Medical Research Council recommended that radiological examinations of the lower abdomen and pelvis of women of childbearing age should be confined to the 10-day interval following the onset of menstruation. Recent evidence suggests that the first four weeks from the first day of the last menstrual period is not a critically radiosensitive period and consequently strict adherence to the ten-day rule is no longer indicated

  3. Feeding behavior and performance of dairy cows during the transition period seven days before and after calvingComportamento e desempenho de vacas leiteiras no período de transição de sete dias antes e após o parto

    Directory of Open Access Journals (Sweden)

    Douglas Veira

    2011-10-01

    Full Text Available Dairy cows experience challenges during the transition period, which may put them at risk of diseases such as rumen acidosis and laminitis. The traditional recommendations during the transition period is to feed dairy cows on moderate level of concentrates in the pre-partum and switch it to high grain diet just after calving. However, there are some evidences that this management may cause a bump effect on the feeding intake in the post-partum period. The aim of this work was to study the effect of a constant diet during all transition period on the behaviour; feeding intake and milk yield of dairy cows. Thirty primiparous and multiparous Holstein dairy cows were at random allocated in one group fed on higher fibre diet in the pre-partum followed by a higher concentrate diet in the post-partum (traditional management and in a second group fed constantly on a higher fibre diet during all transition period. The behaviour and the feeding intake were monitored by an electronic feeding system and data loggers and milk yield data obtained in the milking parlour computer. The animals fed on the constant diet spent more time eating ration in second day post-partum, 142 minutes/day and cows in traditional recommendations 105minutes/day, while cows fed on lactation diet just after calving had higher dry matter intake in day 1 averaging 2.2 kg/day/100 kg LW but not in the following days, longer for cows receiving the constant diet the DMI was 1.7 kg/day/100 kg LW. There were no significant differences between the two diets related to milk yield (P>0.05. Cows fed diets constant throughout the transition period produced an average of 29.0 ± 8.2 liters of milk/day, while those who received traditional treatment ration with the highest concentrate after birth, produced an average of 29.1 ± 7.5 liters of milk/day. These results do not allow to a final conclusion about the recommendation to delay or not to switch diet after post-partum to avoid the bump in dry

  4. p38 (Mapk14/11) occupies a regulatory node governing entry into primitive endoderm differentiation during preimplantation mouse embryo development

    Czech Academy of Sciences Publication Activity Database

    Thamodaran, V.; Bruce, Alexander

    2016-01-01

    Roč. 6, č. 9 (2016), č. článku 160190. ISSN 2046-2441 Grant - others:GA ČR(CZ) GA13-03295S Institutional support: RVO:60077344 Keywords : preimplantation mouse embryo * cell-fate * primitive endoderm Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.481, year: 2016 http://rsob.royalsocietypublishing.org/content/6/9/160190

  5. DNA methylation in porcine preimplantation embryos developed in vivo and produced by in vitro fertilization, parthenogenetic activation and somatic cell nuclear transfer

    DEFF Research Database (Denmark)

    Deshmukh, Rahul Shahaji; Østrup, Olga; Østrup, Esben

    2011-01-01

    DNA demethylation and remethylation are crucial for reprogramming of the differentiated parental/somatic genome in the recipient ooplasm upon somatic cell nuclear transfer. Here, we analyzed the DNA methylation dynamics during porcine preimplantation development. Porcine in vivo developed (IV......), in vitro fertilized (IVF), somatic cell nuclear transfer (SCNT) and parthenogenetically activated (PA) embryos were evaluated for DNA methylation quantification at different developmental stages. Fertilized (IV and IVF) one-cell stages lacked a substantial active demethylation of the paternal genome...

  6. DNA methylation in porcine preimplantation embryos developed in-vivo or produced by in-vitro fertilization, parthenogenetic activation and somatic cell nuclear transfer

    DEFF Research Database (Denmark)

    Deshmukh, Rahul Shahaji; Østrup, Olga; Østrup, Esben

    2011-01-01

    DNA demethylation and remethylation are crucial for reprogramming of the differentiated parental/somatic genome in the recipient ooplasm upon somatic cell nuclear transfer. Here, we analyzed the DNA methylation dynamics during porcine preimplantation development. Porcine in vivo developed (IV......), in vitro fertilized (IVF), somatic cell nuclear transfer (SCNT) and parthenogenetically activated (PA) embryos were evaluated for DNA methylation quantification at different developmental stages. Fertilized (IV and IVF) one-cell stages lacked a substantial active demethylation of the paternal genome...

  7. Day Care Centers

    Data.gov (United States)

    Department of Homeland Security — This database contains locations of day care centers for 50 states and Washington D.C. and Puerto Rico. The dataset only includes center based day care locations...

  8. Rationalization of Comet Halley's periods

    Science.gov (United States)

    Belton, Michael J. S.

    1990-01-01

    The sense of long axis orientation of Comet Halley during the Vega 1 encounter must be reversed from that deduced by Sagdeev et al. (1986) in order to harmonize the comet nucleus' Vega/Giotto-observed orientations with periodicities extracted from time-series brightness data. It is also demonstrated that Vega/Giotto observations can be satisfied by either a 2.2- or 3.7-day long-axis free precession period. A novel Fourier algorithm is used to reanalyze five independent data sets; strong evidence is adduced for periods harmonically related to a 7.4-day period. The preferred candidate models for Halley's nuclear rotation are characterized by a long-axis precession period of 3.7 days.

  9. Birth of a healthy infant after preimplantation genetic diagnosis by sequential blastomere and trophectoderm biopsy for β-thalassemia and HLA genotyping.

    Science.gov (United States)

    Milachich, Tanya; Timeva, Tanya; Ekmekci, Cumhur; Beyazyurek, Cagri; Tac, Huseyin Avni; Shterev, Atanas; Kahraman, Semra

    2013-07-01

    Preimplantation genetic diagnosis (PGD) is a widely used technique for couples at genetic risk and involves the diagnosis and transfer of unaffected embryos generated through in vitro fertilization (IVF) techniques. For those couples who are at risk of transmitting a genetic disease to their offspring, preimplantation embryos can be selected according to their genetic status as well as human leukocyte antigen (HLA) compatibility with the affected child. Stem cells from the resulting baby's umbilical cord blood can be used for transplantation to the affected sibling without graft rejection. Here we report successful hematopoietic stem cell transplantation (HSCT) after the birth of a healthy infant, who was born after successful PGD testing with both cleavage stage and blastocyst stage biopsy for the purpose of diagnosis of β-thalassemia and HLA compatibility. The specific feature of this work is not only to have the first successful HSCT achieved in Bulgaria after using preimplantation HLA typing technique, it also demonstrates how to accomplish this success via cross-border collaboration of different units, which makes the application of these sophisticated methods possible in hospitals not having the necessary equipments and expertise. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  10. Preimplantation diagnosis of repeated miscarriage due to chromosomal translocations using metaphase chromosomes of a blastomere biopsied from 4- to 6-cell-stage embryos.

    Science.gov (United States)

    Tanaka, Atsushi; Nagayoshi, Motoi; Awata, Shoichiro; Mawatari, Yoshifumi; Tanaka, Izumi; Kusunoki, Hiroshi

    2004-01-01

    To evaluate the safety and accuracy of karyotyping the blastomere chromosomes at metaphase in the natural cell cycle for preimplantation diagnosis. A pilot study. A private infertility clinic and a university laboratory. Eleven patients undergoing IVF and preimplantation diagnosis. Intact human embryos at the 4- to 6-cell stage and human-mouse heterokaryons were cultured and checked hourly for disappearance of the nuclear envelope. After it disappeared, the metaphase chromosomes were analyzed by fluorescence in situ hybridization. Percentage of analyzable metaphase plates and safety and accuracy of the method. The success rate of electrofusion to form human-mouse heterokaryons was 87.1% (27/31), and analyzable chromosomes were obtained from 77.4% (24/31) of the heterokaryons. On the other hand, disappearance of the nuclear envelope occurred in 89.5% (17/19) of the human embryos and it began earlier than that in the heterokaryons. Analyzable chromosomes were obtained and their translocation sites were identified in all blastomeres biopsied from the 17 embryos. After the biopsy, 67.0% of the embryos could develop to the blastocyst stage. The natural cell cycle method reported herein requires frequent observation, but it is safe, with no artificial effects on the chromosomes and without loss of or damage to blastomeres, which occurred with the electrofusion method. Using the natural cell cycle method, we could perform preimplantation diagnosis with nearly 100% accuracy.

  11. Is day surgery safe?

    DEFF Research Database (Denmark)

    Majholm, Birgitte; Engbæk, J; Bartholdy, Jens

    2012-01-01

    Day surgery is expanding in several countries, and it is important to collect information about quality. The aim of this study was to assess morbidity and unanticipated hospital visits 0-30 days post-operatively in a large cohort.......Day surgery is expanding in several countries, and it is important to collect information about quality. The aim of this study was to assess morbidity and unanticipated hospital visits 0-30 days post-operatively in a large cohort....

  12. Day Care: Other Countries.

    Science.gov (United States)

    Hjartarson, Freida; And Others

    This collection of 5 bilingual papers on day care programs in foreign countries (China, the Soviet Union, and 3 Scandinavian countries) is part of a series of papers on various aspects of day care published by the Canadian Department of Health and Welfare. Each paper is presented in both English and French. Paper I considers day care services in…

  13. Every Day Is Mathematical

    Science.gov (United States)

    Barger, Rita H.; Jarrah, Adeeb M.

    2012-01-01

    March 14 is special because it is Pi Day. Mathematics is celebrated on that day because the date, 3-14, replicates the first three digits of pi. Pi-related songs, websites, trivia facts, and more are at the fingertips of interested teachers and students. Less celebrated, but still fairly well known, is National Metric Day, which falls on October…

  14. International Women's Day speech.

    Science.gov (United States)

    Kazibwe, S W

    1993-01-01

    The objectives of the International Women's Day are: 1) to celebrate the struggle for women's rights in the economic, social, political, and cultural domain; 2) to reaffirm women's solidarity in the struggle for peace; 3) and to show what women have achieved. In 1988, Uganda's government of the National Resistance Movement created the Ministry of Women in Development. The period 1988-1990 was one of consultations, needs assessment, planning, and recruiting staff for the Ministry. From 1990 to 1993, measurable results have been achieved. The Ministry's gender concerns pertained to the sector policies of the Ministries of Agriculture, Animal Industry and Fisheries, Education, Health, Water, Energy, Minerals, and Environment Protection. Under the Umbrella Project for Women in Development, gender sensitization has been achieved with policy makers in ministries, at district level, and in the media. Gender issues have also been incorporated in the National Political School Curriculum. The Ministry has also trained a corps of 73 women trainers from 38 districts. The Ministry, with funding from DANIDA, collected women's views on the constitution through meetings and seminars in all the districts in the country. Recommendations were submitted in a consolidated report to the Constitution Commission. A pilot para-legal scheme is successfully being implemented in Kamuli district. A community-based pool of legal advisors has been developed. Legal matters that affect both women and men are undertaken at the community level. The economic emancipation of women is a crucial part of the Ministry's mandate. In conjunction with NGOs, pilot credit programs are being run in Mukono, Jinja, Mbale, and Kapchorwa districts. Cross-sectoral programs are in close collaboration with the rural water and sanitation program, the Northern Uganda rehabilitation program, and the integrated Basic Education Pilot Project to be implemented in 8 districts.

  15. Slimmed May Day Holiday

    Institute of Scientific and Technical Information of China (English)

    Liu Xinwen

    2008-01-01

    @@ Last November the State Council of China decided to renew its holiday system by reducing the seven-day Mav Dav holiday to three days and introducing three new one-day public holidays,namely the Qingming Festival,Dragon Boat Festival and Moon Festival.BY doing so,the three golden-week holidays that were introduced in 1999,namely the Spring Festival,Mav Dav and National Day,could be better distributed.The New Year's Eve holiday would remain one day.The new holiday plan was supposed to take effect in 2008.

  16. Diurnal and day-to-day variation of isometric muscle strength in myasthenia gravis.

    Science.gov (United States)

    Vinge, Lotte; Jakobsen, Johannes; Pedersen, Asger Roer; Andersen, Henning

    2016-01-01

    In patients with myasthenia gravis (MG), muscle strength is expected to decrease gradually during the day due to physical activities. Isometric muscle strength at the shoulder, knee, and ankle was determined in 10 MG patients (MGFA class II-IV) who were receiving usual medical treatment and in 10 control subjects. To determine diurnal and day-to-day variation, muscle strength was measured 4 times during day 1 and once at day 2. Knee extension strength decreased during the day in both patients and controls. Neither diurnal nor day-to-day variation of muscle strength was higher in patients compared with controls. Patients with mild to moderate MG did not have increased variation of isometric muscle strength during the day or from day-to-day compared with controls. This suggests that isometric muscle performance can be determined with high reproducibility in similar groups of MG patients without regard to time of day. © 2015 Wiley Periodicals, Inc.

  17. Open Day at SHMI.

    Science.gov (United States)

    Jarosova, M.

    2010-09-01

    During the World Meteorological Day there has been preparing "Open Day" at Slovak Hydrometeorological Institute. This event has more than 10 years traditions. "Open Day" is one of a lot of possibilities to give more information about meteorology, climatology, hydrology too to public. This "Day" is executed in whole Slovakia. People can visit the laboratories, the forecasting room....and meteo and clima measuring points. The most popular is visiting forecasting room. Visitors are interested in e.g. climatologic change in Slovakia territory, preparing weather forecasting, dangerous phenomena.... Every year we have more than 500 visitors.

  18. Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of -Thalassemia

    Directory of Open Access Journals (Sweden)

    Raquel M. Fernández

    2013-01-01

    Full Text Available Preimplantation genetic diagnosis (PGD of single gene disorders, combined with HLA matching (PGD-HLA, has emerged as a tool for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type compatible with that of an existing affected child. Here, we present a novel one-step multiplex PCR to genotype a spectrum of STRs to simultaneously perform HLA typing and PGD for -thalassemia. This method is being routinely used for PGD-HLA cycles in our department, with a genotyping success rate of 100%. As an example, we present the first successful PGD-HLA typing in Spain, which resulted in the birth of a boy and subsequent successful HSC transplantation to his affected brother, who is doing well 4 years following transplantation. The advantage of our method is that it involves only a round of single PCR for multiple markers amplification (up to 10 markers within the HLA and 6 markers at the -globin loci. This strategy has allowed us to considerably reduce the optimization of the PCR method for each specific PGD-HLA family as well as the time to obtain molecular results in each cycle.

  19. The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

    Science.gov (United States)

    Girardet, Anne; Viart, Victoria; Plaza, Stéphanie; Daina, Gemma; De Rycke, Martine; Des Georges, Marie; Fiorentino, Francesco; Harton, Gary; Ishmukhametova, Aliya; Navarro, Joaquima; Raynal, Caroline; Renwick, Pamela; Saguet, Florielle; Schwarz, Martin; SenGupta, Sioban; Tzetis, Maria; Roux, Anne-Françoise; Claustres, Mireille

    2016-04-01

    Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy. However, there are no available standardized protocols, so that each center has to develop its own diagnostic strategies and procedures. Furthermore, reproductive decisions are complicated by the diversity of disease-causing variants in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and the complexity of correlations between genotypes and associated phenotypes, so that attitudes and practices toward the risks for future offspring can vary greatly between countries. On behalf of the EuroGentest Network, eighteen experts in PGD and/or molecular diagnosis of CF from seven countries attended a workshop held in Montpellier, France, on 14 December 2011. Building on the best practice guidelines for amplification-based PGD established by ESHRE (European Society of Human Reproduction and Embryology), the goal of this meeting was to formulate specific guidelines for CF-PGD in order to contribute to a better harmonization of practices across Europe. Different topics were covered including variant nomenclature, inclusion criteria, genetic counseling, PGD strategy and reporting of results. The recommendations are summarized here, and updated information on the clinical significance of CFTR variants and associated phenotypes is presented.

  20. Obstetric and neonatal outcomes of pregnancies conceived after preimplantation genetic diagnosis: cohort study and meta-analysis.

    Science.gov (United States)

    Hasson, Joseph; Limoni, Dana; Malcov, Mira; Frumkin, Tsvia; Amir, Hadar; Shavit, Tal; Bay, BjØrn; Many, Ariel; Almog, Benjamin

    2017-08-01

    Preimplantation genetic diagnosis (PGD) may pose risks to pregnancy outcome owing to the invasiveness of the biopsy procedure. This study compares outcome of singleton and twin clinical pregnancies conceived after fresh embryo transfers of PGD (n = 89) and matched intracytoplasmic sperm injection (ICSI) pregnancies (n = 166). The study was carried out in a single university affiliated centre. Because of the paucity of available data, a literature-based meta-analysis of studies comparing neonatal outcome of PGD and ICSI pregnancies was also conducted. In the retrospective cohort study, obstetric and neonatal outcome were available in 67 PGD and 118 ICSI pregnancies. Perinatal outcomes were comparable between PGD and ICSI pregnancies. Meta-analysis revealed similar outcomes, except for higher rate of low birth weight (<2500 g) neonates in ICSI twin pregnancies (RR 0.86, 95% CI 0.74 to 1.0). Mean birth weight, gestational age at birth, pre-term deliveries (<37 weeks) and malformations were all comparable. In this cohort study and subsequent meta-analysis, no association was found between PGD conceived pregnancies and risks of adverse neonatal or obstetrical outcomes compared with ICSI pregnancies. Hence, blastomere biopsy for PGD does not seem to increase the risk for adverse perinatal outcome compared with ICSI pregnancies. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  1. The Role of Peroxisome Proliferator-Activated Receptors in the Development and Physiology of Gametes and Preimplantation Embryos

    Directory of Open Access Journals (Sweden)

    Jaou-Chen Huang

    2008-01-01

    Full Text Available In several species, a family of nuclear receptors, the peroxisome proliferator-activated receptors (PPARs composed of three isotypes, is expressed in somatic cells and germ cells of the ovary as well as the testis. Invalidation of these receptors in mice or stimulation of these receptors in vivo or in vitro showed that each receptor has physiological roles in the gamete maturation or the embryo development. In addition, synthetic PPARγ ligands are recently used to induce ovulation in women with polycystic ovary disease. These results reveal the positive actions of PPAR in reproduction. On the other hand, xenobiotics molecules (in herbicides, plasticizers, or components of personal care products, capable of activating PPAR, may disrupt normal PPAR functions in the ovary or the testis and have consequences on the quality of the gametes and the embryos. Despite the recent data obtained on the biological actions of PPARs in reproduction, relatively little is known about PPARs in gametes and embryos. This review summarizes the current knowledge on the expression and the function of PPARs as well as their partners, retinoid X receptors (RXRs, in germ cells and preimplantation embryos. The effects of natural and synthetic PPAR ligands will also be discussed from the perspectives of reproductive toxicology and assisted reproductive technology.

  2. Effect of MeV energy He and N pre-implantation on the formation of porous silicon

    Energy Technology Data Exchange (ETDEWEB)

    Manuaba, A. E-mail: manu@rmki.kfki.hu; Paszti, F.; Ortega, C.; Grosman, A.; Horvath, Z.E.; Szilagyi, E.; Khanh, N.Q.; Vickridge, I

    2001-06-01

    The effects of MeV energy He and N pre-implantation of Si substrate on the structure of porous silicon formed by anodic etching were studied by measuring the depth profiles of {sup 15}N decorating the pores walls. Radiation damage was recovered by annealing after the implantation. It was found that the He implant accelerates the etching process, probably due to the bubbles or the remaining lattice damage. At a dose of 8x10{sup 16} ions/cm{sup 2} the He containing layer was formed with a significantly enhanced porosity due to the contribution of the large-sized bubbles. At the highest dose of 32.5x10{sup 16} ions/cm{sup 2} flaking took place during the anodic etching. In contrast to He, N stopped the anodic etching at a depth of critical N concentration of {approx}0.9 at.%. For the lowest implantation dose, where the peak concentration was below this limit, the pores propagate through the implanted layer with an enhanced speed.

  3. Effect of MeV energy He and N pre-implantation on the formation of porous silicon

    International Nuclear Information System (INIS)

    Manuaba, A.; Paszti, F.; Ortega, C.; Grosman, A.; Horvath, Z.E.; Szilagyi, E.; Khanh, N.Q.; Vickridge, I.

    2001-01-01

    The effects of MeV energy He and N pre-implantation of Si substrate on the structure of porous silicon formed by anodic etching were studied by measuring the depth profiles of 15 N decorating the pores walls. Radiation damage was recovered by annealing after the implantation. It was found that the He implant accelerates the etching process, probably due to the bubbles or the remaining lattice damage. At a dose of 8x10 16 ions/cm 2 the He containing layer was formed with a significantly enhanced porosity due to the contribution of the large-sized bubbles. At the highest dose of 32.5x10 16 ions/cm 2 flaking took place during the anodic etching. In contrast to He, N stopped the anodic etching at a depth of critical N concentration of ∼0.9 at.%. For the lowest implantation dose, where the peak concentration was below this limit, the pores propagate through the implanted layer with an enhanced speed

  4. Preimplantation genetic diagnosis of Von Hippel-Lindau disease cancer syndrome by combined mutation and segregation analysis

    Directory of Open Access Journals (Sweden)

    Denilce R. Sumita

    2007-03-01

    Full Text Available Von Hippel-Lindau (VHL disease is an autosomal dominant cancer syndrome, associated with the development of tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable. The VHL disease tumor suppressor gene (VHL maps to 3p25-p26 and mutations ranging from a single base change to large deletions have been detected in patients with VHL disease. We developed a single cell PCR protocol for preimplantation genetic diagnosis (PGD of VHL disease to select unaffected embryos on the basis of the detection of the specific mutation and segregation analysis of polymorphic linked markers. Multiplex-nested PCR using single buccal cells of an affected individual were performed in order to test the accuracy and reliability of this single-cell protocol. For each locus tested, amplification efficiency was 83% to 87% and allelic drop-out rates ranged from 12% to 8%. Three VHL disease PGD cycles were performed on cells from a couple with paternal transmission of a 436delC mutation in exon 2 of the VHL gene, leading to the identification of three unaffected embryos. Independent of the mutation present, this general PGD protocol for the diagnosis of VHL disease can be used in families informative for either the D3S1038 or D3S1317 microsatellite markers.

  5. Influence of bone marrow-derived mesenchymal stem cells pre-implantation differentiation approach on periodontal regeneration in vivo.

    Science.gov (United States)

    Cai, Xinjie; Yang, Fang; Yan, Xiangzhen; Yang, Wanxun; Yu, Na; Oortgiesen, Daniel A W; Wang, Yining; Jansen, John A; Walboomers, X Frank

    2015-04-01

    The implantation of bone marrow-derived mesenchymal stem cells (MSCs) has previously been shown successful to achieve periodontal regeneration. However, the preferred pre-implantation differentiation strategy (e.g. maintenance of stemness, osteogenic or chondrogenic induction) to obtain optimal periodontal regeneration is still unknown. This in vivo study explored which differentiation approach is most suitable for periodontal regeneration. Mesenchymal stem cells were obtained from Fischer rats and seeded onto poly(lactic-co-glycolic acid)/poly(ɛ-caprolactone) electrospun scaffolds, and then pre-cultured under different in vitro conditions: (i) retention of multilineage differentiation potential; (ii) osteogenic differentiation approach; and (iii) chondrogenic differentiation approach. Subsequently, the cell-scaffold constructs were implanted into experimental periodontal defects of Fischer rats, with empty scaffolds as controls. After 6 weeks of implantation, histomorphometrical analyses were applied to evaluate the regenerated periodontal tissues. The chondrogenic differentiation approach showed regeneration of alveolar bone and ligament tissues. The retention of multilineage differentiation potential supported only ligament regeneration, while the osteogenic differentiation approach boosted alveolar bone regeneration. Chondrogenic differentiation of MSCs before implantation is a useful strategy for regeneration of alveolar bone and periodontal ligament, in the currently used rat model. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Orthopaedics in day surgery

    African Journals Online (AJOL)

    processing of day cases is separate, more efficient and cases of ... anaesthetists, patient records, costing of procedures, drugs to be ... Methods: Patients treated at two day surgical units study with the aid of careful record, as to the selection, ... treatment only. .... Trauma, especially road traffic .... children with cerebral palsy.

  7. NO TOBACCO DAY

    CERN Multimedia

    Medical Service

    2002-01-01

    The CERN Medical Service is joining in with the world no tobacco day, which takes place on 31 May 2002. We encourage you to take this opportunity to stop smoking for good. Nurses and Doctors will be present on that day to give out information on methods to stop smoking and to assist you in your efforts.

  8. The Graduation Day

    Institute of Scientific and Technical Information of China (English)

    毛竹晨

    2004-01-01

    It is one of the hottest summer days that Cambridge has ever had.We wereclad(clothe的过去式和过去分词)in the black gown once more.However thiswill probably be my last time to wear it.I had not been wearing it that much af-ter all.After this day,it will be shipped back to my home and lie in my closet,just to be dug out many years later and the sight of it will bring me back to thisvery day.It is our graduation day,the day wher we can add a hood(头巾;兜帽)

  9. Orbital periods of recurrent novae

    International Nuclear Information System (INIS)

    Schaefer, B.E.

    1990-01-01

    The class of recurrent novae (RN) with thermonuclear runaways contains only three systems (T Pyx, U Sco, and V394 CrA), for which no orbital periods are known. This paper presents a series of photometric observations where the orbital periods for all three systems are discovered. T Pyx is found to have sinusoidal modulation with an amplitude of 0.08 mag and a period of 2.3783 h (with a possible alias of 2.6403 h). U Sco is found to be an eclipsing system with an eclipse amplitude of roughly 1.5 mag and an orbital period of 1.2344 days. V394 CrA is found to have sinusoidal modulation with an amplitude of 0.5 mag and a period of 0.7577 days. Thus two out of three RN with thermonuclear runaways (or five out of six for all RN) have evolved companions. 16 refs

  10. Night work, light exposure and melatonin on work days and days off

    DEFF Research Database (Denmark)

    Daugaard, Stine; Garde, Anne Helene; Bonde, Jens Peter Ellekilde

    2017-01-01

    We aimed to examine the effects of night work on salivary melatonin concentration during and subsequent to night work and the mediating role of light. We included 254 day workers and 87 night workers who were followed during 322 work days and 301 days off work. Each day was defined as the 24 hour...... period starting from the beginning of a night shift or from waking in the mornings with day work and days off. Light levels were recorded and synchronized with diary information (start and end of sleep and work). On average, participants provided four saliva samples per day, and these were analyzed...... for melatonin concentration by liquid chromatography tandem mass spectrometry (LC-MS/MS). Differences between day and night workers on work days and days off were assessed with multilevel regression models with melatonin concentration as the primary outcome. All models were stratified or adjusted by time of day...

  11. Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in patients undergoing in vitro fertilization with poor prognosis

    Science.gov (United States)

    Majumdar, Gaurav; Majumdar, Abha; Lall, Meena; Verma, Ishwar C.; Upadhyaya, Kailash C.

    2016-01-01

    CONTEXT: A majority of human embryos produced in vitro are aneuploid, especially in couples undergoing in vitro fertilization (IVF) with poor prognosis. Preimplantation genetic screening (PGS) for all 24 chromosomes has the potential to select the most euploid embryos for transfer in such cases. AIM: To study the efficacy of PGS for all 24 chromosomes by microarray comparative genomic hybridization (array CGH) in Indian couples undergoing IVF cycles with poor prognosis. SETTINGS AND DESIGN: A retrospective, case–control study was undertaken in an institution-based tertiary care IVF center to compare the clinical outcomes of twenty patients, who underwent 21 PGS cycles with poor prognosis, with 128 non-PGS patients in the control group, with the same inclusion criterion as for the PGS group. MATERIALS AND METHODS: Single cells were obtained by laser-assisted embryo biopsy from day 3 embryos and subsequently analyzed by array CGH for all 24 chromosomes. Once the array CGH results were available on the morning of day 5, only chromosomally normal embryos that had progressed to blastocyst stage were transferred. RESULTS: The implantation rate and clinical pregnancy rate (PR) per transfer were found to be significantly higher in the PGS group than in the control group (63.2% vs. 26.2%, P = 0.001 and 73.3% vs. 36.7%, P = 0.006, respectively), while the multiple PRs sharply declined from 31.9% to 9.1% in the PGS group. CONCLUSIONS: In this pilot study, we have shown that PGS by array CGH can improve the clinical outcome in patients undergoing IVF with poor prognosis. PMID:27382234

  12. Adult Day Services

    Science.gov (United States)

    ... Home Health Aide Semi Private Private $25,000 Adult Day Servi Acesssisted Living Home Care Nursing Homes $0 1. General information based on industry views of various members of the National Adult ...

  13. Adult Day Care

    Science.gov (United States)

    ... Finding a Center Not all states license and regulate adult day care centers. There may be a ... is not usually covered by Medicare insurance, some financial assistance may be available through a federal or ...

  14. AAS 227: Day 4

    Science.gov (United States)

    Kohler, Susanna

    2016-01-01

    Editors Note:This week were at the 227th AAS Meeting in Kissimmee, FL. Along with several fellow authors from astrobites.com, I will bewritingupdates on selectedevents at themeeting and posting at the end of each day. Follow along here or atastrobites.com, or catch ourlive-tweeted updates from the@astrobites Twitter account. The usual posting schedule for AAS Nova will resumenext week.Welcome to Day 4 of the winter American Astronomical Society (AAS) meeting in Kissimmee! Several of us are attending the conference this year, and we will report highlights from each day here on astrobites. If youd like to see more timely updates during the day, we encourage you to follow @astrobites on twitter or search the #aas227 hashtag.Helen B. Warner Prize: Origins of Structure in Planetary Systems (by Erika Nesvold)Another excellent prize lecture started off todays sessions. The Helen B. Warner Prize is awarded for achievement in observational or theoretical astrophysics by a young researcher (no more than eight years after their Ph.D.). This years Warner Prize was presented to Ruth Murray-Clay of UC Santa Barbara. For her award lecture, Murray-Clay told us all about planetary system architecture: the number, masses, and orbits of planets in a given system.Ruth Murray-Clay [photo from http://web.physics.ucsb.edu/ ~murray/biocv.html]The underlying question motivating this type of research is: How rare is the Solar System? In other words, how likely is it that a given planetary system will have rocky planets close to their star, gas giants farther out, and ice giants at the outer reaches of the system? Answering this question will help us solve the physics problem of how and where planets form, and will also help us on our search for other planets like Earth.The data on exoplanet population from transit and radial velocity observations and from direct imaging tell us that our Solar System is not common (many systems we observe have much more eccentric gas giants), but that doesnt

  15. Open Day: General Information

    CERN Multimedia

    2004-01-01

    http://www.cern.ch/cern50/ With 50 visit points, including theatre performances, debates and visits to installations that have never before been opened to the public, CERN's 50th anniversary Open Day is set to be a day to remember. Seven hundred volunteers have signed up to help for the day. The Open Day team truly appreciates this wonderful show of support! The Open Day would not be possible without their help. Car parking and Access Cars with a CERN sticker can access all CERN sites as normal. However, to avoid congestion on Meyrin site, we ask you to park in areas that will not be open to the public (see below) and to use the shuttle services wherever possible for your transport during the day. Private cars on the French side of the border without a CERN sticker will be diverted to a car park area in the Prévessin site. There is a shuttle service connecting the Meyrin and Prévessin sites via SM18 every 20 minutes. Private cars on the Swiss side of the border without a CERN sticker will be diverte...

  16. Proteomic analysis of the early bovine yolk sac fluid and cells from the day 13 ovoid and elongated preimplatation embryos

    DEFF Research Database (Denmark)

    Jensen, Pernille L.; Beck, Hans Christian; Petersen, Tonny S.

    2014-01-01

    differentiate into the hypoblast and epiblast, which remain surrounded by the trophectoderm. The formation of the hypoblast epithelium is also accompanied by a change in the fluid within the embryo, i.e., the blastocoel fluid gradually alters to become the primitive yolk sac (YS) fluid. Our previous research......The bovine blastocyst hatches 8 to 9 days after fertilization, and this is followed by several days of preimplantation development during which the embryo transforms from a spherical over an ovoid to an elongated shape. As the spherical embryo enlarges, the cells of the inner cell mass...... describes the protein composition of human and bovine blastocoel fluid, which is surrounded by the trophectoderm and undifferentiated cells of the inner cell mass. In this study, we further examine the changes in the protein composition in both the primitive YS fluid and the embryonic cells during early...

  17. AAS 228: Day 4

    Science.gov (United States)

    Kohler, Susanna

    2016-06-01

    began the session by explaining his new models which trace the diffusive cooling of an initial supernova shock. His team has created an open source code, the SuperNova Explosion Code or SNEC, to allow others to explore a variety of explosion properties.Janie De La Rosa then spoke about her work on observing Type IIn supernovae (those with narrow emission lines in their spectra) at ultraviolet and optical wavelengths. These wavelengths are sensitive to progenitor models and the geometry of the surrounding material.Composite image of the supernova remnant Cassiopeia A, using data from the Chandra X-ray telescope, NASAs Spitzer Space Telescope, and ground-based facilities. [NASA/CXC/SAO]Following the exploration of progenitor geometry, Douglas C. Leonard spoke about his work in hunting for polarization in type IIP supernovae (those with long, plateaued light curves). A high degree of polarization implies asymmetry in the explosion itself, and he has been able to find such asymmetry in a number of type IIP supernovae. He pointed out that bubble-like structure (like what we see in the beautiful supernova remnant Cassiopeia A) might explain the polarization as well. Switching gears, Karri Kolijonen spoke about an interesting X-ray binary (a binary consistent of a compact object and star that emits strongly in X-rays) known as GS 1354-64. This pair has an extremely short orbital period of just two and a half days! He explained how an instability in the black holes accretion disk might explain a recent outburst in the system.Thomas Pannuti explained the basic morphologies of supernova remnants: shell, composite, and mixed. He has taken extensive, multiwavelength images of a mixed remnant known as W28 from radio through X-ray wavelengths. He notes that the radio masers in the remnant are offset from the X-ray light, although the significance of this is still an open question.Finally, Maria Dainotti wrapped up the session with a discussion of long duration GRBs as standard

  18. Insulin and branched-chain amino acid depletion during mouse preimplantation embryo culture programmes body weight gain and raised blood pressure during early postnatal life.

    Science.gov (United States)

    Velazquez, Miguel A; Sheth, Bhavwanti; Smith, Stephanie J; Eckert, Judith J; Osmond, Clive; Fleming, Tom P

    2018-02-01

    Mouse maternal low protein diet exclusively during preimplantation development (Emb-LPD) is sufficient to programme altered growth and cardiovascular dysfunction in offspring. Here, we use an in vitro model comprising preimplantation culture in medium depleted in insulin and branched-chain amino acids (BCAA), two proposed embryo programming inductive factors from Emb-LPD studies, to examine the consequences for blastocyst organisation and, after embryo transfer (ET), postnatal disease origin. Two-cell embryos were cultured to blastocyst stage in defined KSOM medium supplemented with four combinations of insulin and BCAA concentrations. Control medium contained serum insulin and uterine luminal fluid amino acid concentrations (including BCAA) found in control mothers from the maternal diet model (N-insulin+N-bcaa). Experimental medium (three groups) contained 50% reduction in insulin and/or BCAA (L-insulin+N-bcaa, N-insulin+L-bcaa, and L-insulin+N-bcaa). Lineage-specific cell numbers of resultant blastocysts were not affected by treatment. Following ET, a combined depletion of insulin and BCAA during embryo culture induced a non sex-specific increase in birth weight and weight gain during early postnatal life. Furthermore, male offspring displayed relative hypertension and female offspring reduced heart/body weight, both characteristics of Emb-LPD offspring. Combined depletion of metabolites also resulted in a strong positive correlation between body weight and glucose metabolism that was absent in the control group. Our results support the notion that composition of preimplantation culture medium can programme development and associate with disease origin affecting postnatal growth and cardiovascular phenotypes and implicate two important nutritional mediators in the inductive mechanism. Our data also have implications for human assisted reproductive treatment (ART) practice. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  19. Comparison of toxicity of smoke from traditional and harm-reduction cigarettes using mouse embryonic stem cells as a novel model for preimplantation development.

    Science.gov (United States)

    Lin, S; Tran, V; Talbot, P

    2009-02-01

    Embryonic stem cells (ESC), which originate from the inner cell mass of blastocysts, are valuable models for testing the effects of toxicants on preimplantation development. In this study, mouse ESC (mESC) were used to compare the toxicity of mainstream (MS) and sidestream (SS) cigarette smoke on cell attachment, survival and proliferation. In addition, smoke from a traditional commercial cigarette was compared with smoke from three harm-reduction brands. MS and SS smoke solutions were made using an analytical smoking machine and tested at three doses using D3 mESC plated on 0.2% gelatin. At 6 and 24 h, images were taken and the number of attached cells was evaluated. Both MS and SS smoke from traditional and harm-reduction cigarettes inhibited cell attachment, survival and proliferation dose dependently. For all brands, SS smoke was more potent than MS smoke. However, removal of the cigarette filter increased the toxicity of MS smoke to that of SS smoke. Both MS and SS smoke from harm-reduction cigarettes were as inhibitory, or more inhibitory, than their counterparts from the traditional brand. When preimplantation mouse embryos were cultured for 1 h in MS or SS smoke solutions from a harm-reduction brand, blastomeres became apoptotic, in agreement with the data obtained using mESC. mESC provide a valuable model for toxicological studies on the preimplantation stage of development and were used to show that MS and SS smoke from traditional and harm-reduction cigarettes are detrimental to embryonic cells prior to implantation.

  20. Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.

    Science.gov (United States)

    Ramos, Laia; del Rey, Javier; Daina, Gemma; García-Aragonés, Manel; Armengol, Lluís; Fernandez-Encinas, Alba; Parriego, Mònica; Boada, Montserrat; Martinez-Passarell, Olga; Martorell, Maria Rosa; Casagran, Oriol; Benet, Jordi; Navarro, Joaquima

    2014-01-01

    Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis. However, while metaphase-CGH and BAC array-CGH have been widely used for Preimplantation Genetic Diagnosis, oligonucleotide array-CGH has not been used in an extensive way. A comparison between oligonucleotide array-CGH and metaphase-CGH has been performed analysing 15 single fibroblasts from aneuploid cell-lines and 18 single blastomeres from human cleavage-stage embryos. Afterwards, oligonucleotide array-CGH and BAC array-CGH were also compared analysing 16 single blastomeres from human cleavage-stage embryos. All three comprehensive analysis techniques provided broadly similar cytogenetic profiles; however, non-identical profiles appeared when extensive aneuploidies were present in a cell. Both array techniques provided an optimised analysis procedure and a higher resolution than metaphase-CGH. Moreover, oligonucleotide array-CGH was able to define extra segmental imbalances in 14.7% of the blastomeres and it better determined the specific unbalanced chromosome regions due to a higher resolution of the technique (≈ 20 kb). Applicability of oligonucleotide array-CGH for Preimplantation Genetic Diagnosis has been demonstrated in two cases of Robertsonian translocation carriers 45,XY,der(13;14)(q10;q10). Transfer of euploid embryos was performed in both cases and pregnancy was achieved by one of the couples. This is the first time that an oligonucleotide array-CGH approach has been successfully applied to Preimplantation Genetic Diagnosis for balanced chromosome rearrangement carriers.

  1. Hematopoietic Stem Cell Transplantation Using Preimplantation Genetic Diagnosis and Human Leukocyte Antigen Typing for Human Leukocyte Antigen-Matched Sibling Donor: A Turkish Multicenter Study.

    Science.gov (United States)

    Kurekci, Emin; Küpesiz, Alphan; Anak, Sema; Öztürk, Gülyüz; Gürsel, Orhan; Aksoylar, Serap; Ileri, Talia; Kuşkonmaz, Barış; Eker, İbrahim; Cetin, Mualla; Tezcan Karasu, Gülsün; Kaya, Zühre; Fışgın, Tunç; Ertem, Mehmet; Kansoy, Savaş; Yeşilipek, Mehmet Akif

    2017-05-01

    Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transfer of the embryos to the mother's uterus. Preimplantation genetic diagnosis has been used not only to avoid the risk of having an affected child, but it also offers, using HLA matching, preselection of potential HLA-genoidentical healthy donor progeny for an affected sibling who requires bone marrow transplantation. Here, we share the hematopoietic stem cell transplantation results of 52 patients with different benign and malign hematological or metabolic diseases or immunodeficiencies whose donors were siblings born with this technique in Turkey since 2008. The median age of the patients' at the time of the transplantation was 8 years (range, 3 to 16 years) and the median age of the donors was 2 years (range, .5 to 6 years). The most common indication for HSCT was thalassemia major (42 of all patients, 80%). The stem cell source in all of the transplantations was bone marrow. In 37 of the transplantations, umbilical cord blood of the same donor was also used. In 50 of the 52 patients, full engraftment was achieved with a mean of 4.6 × 10 6 CD 34 + cells per kg of recipient weight. Ninety-six percent of the patients have been cured through hematopoietic stem cell transplantation without any complication. Primary engraftment failure was seen in only 2 patients with thalassemia major. All of the donors and the patients are alive with good health status. Preimplantation genetic diagnosis with HLA matching offers a life-saving chance for patients who need transplantation but lack an HLA genoidentical donor. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  2. Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.

    Directory of Open Access Journals (Sweden)

    Laia Ramos

    Full Text Available Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH and array-CGH are available for single-cell analysis. However, while metaphase-CGH and BAC array-CGH have been widely used for Preimplantation Genetic Diagnosis, oligonucleotide array-CGH has not been used in an extensive way. A comparison between oligonucleotide array-CGH and metaphase-CGH has been performed analysing 15 single fibroblasts from aneuploid cell-lines and 18 single blastomeres from human cleavage-stage embryos. Afterwards, oligonucleotide array-CGH and BAC array-CGH were also compared analysing 16 single blastomeres from human cleavage-stage embryos. All three comprehensive analysis techniques provided broadly similar cytogenetic profiles; however, non-identical profiles appeared when extensive aneuploidies were present in a cell. Both array techniques provided an optimised analysis procedure and a higher resolution than metaphase-CGH. Moreover, oligonucleotide array-CGH was able to define extra segmental imbalances in 14.7% of the blastomeres and it better determined the specific unbalanced chromosome regions due to a higher resolution of the technique (≈ 20 kb. Applicability of oligonucleotide array-CGH for Preimplantation Genetic Diagnosis has been demonstrated in two cases of Robertsonian translocation carriers 45,XY,der(13;14(q10;q10. Transfer of euploid embryos was performed in both cases and pregnancy was achieved by one of the couples. This is the first time that an oligonucleotide array-CGH approach has been successfully applied to Preimplantation Genetic Diagnosis for balanced chromosome rearrangement carriers.

  3. Raman spectroscopy analysis of differences in composition of spent culture media of in vitro cultured preimplantation embryos isolated from normal and fat mice dams.

    Science.gov (United States)

    Fabian, Dušan; Kačmarová, Martina; Kubandová, Janka; Čikoš, Štefan; Koppel, Juraj

    2016-06-01

    The aim of the present study was to compare overall patterns of metabolic activity of in vitro cultured preimplantation embryos isolated from normal and fat mice dams by means of non-invasive profiling of spent culture media using Raman spectroscopy. To produce females with two different types of body condition (normal and fat), a previously established two-generation model was used, based on overfeeding of experimental mice during prenatal and early postnatal development. Embryos were isolated from spontaneously ovulating and naturally fertilized dams at the 2-cell stage of development and cultured to the blastocyst stage in synthetic oviductal medium KSOMaa. Embryos from fat mice (displaying significantly elevated body weight and fat) showed similar developmental capabilities in vitro as embryos isolated from normal control dams (displaying physiological body weight and fat). The results show that alterations in the composition of culture medium caused by the presence of developing mouse preimplantation embryos can be detected using Raman spectroscopy. Metabolic activity of embryos was reflected in evident changes in numerous band intensities in the 1620-1690cm(-1) (amide I) region and in the 1020-1140cm(-1) region of the Raman spectrum for KSOMaa. Moreover, multivariate analysis of spectral data proved that the composition of proteins and other organic compounds in spent samples obtained after the culture of embryos isolated from fat dams was different from that in spent samples obtained after the culture of embryos from control dams. This study demonstrates that metabolic activity of cultured preimplantation embryos might depend on the body condition of their donors. Copyright © 2016 Society for Biology of Reproduction & the Institute of Animal Reproduction and Food Research of Polish Academy of Sciences in Olsztyn. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  4. Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertsonian Translocation Carriers

    Science.gov (United States)

    Ramos, Laia; del Rey, Javier; Daina, Gemma; García-Aragonés, Manel; Armengol, Lluís; Fernandez-Encinas, Alba; Parriego, Mònica; Boada, Montserrat; Martinez-Passarell, Olga; Martorell, Maria Rosa; Casagran, Oriol; Benet, Jordi; Navarro, Joaquima

    2014-01-01

    Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis. However, while metaphase-CGH and BAC array-CGH have been widely used for Preimplantation Genetic Diagnosis, oligonucleotide array-CGH has not been used in an extensive way. A comparison between oligonucleotide array-CGH and metaphase-CGH has been performed analysing 15 single fibroblasts from aneuploid cell-lines and 18 single blastomeres from human cleavage-stage embryos. Afterwards, oligonucleotide array-CGH and BAC array-CGH were also compared analysing 16 single blastomeres from human cleavage-stage embryos. All three comprehensive analysis techniques provided broadly similar cytogenetic profiles; however, non-identical profiles appeared when extensive aneuploidies were present in a cell. Both array techniques provided an optimised analysis procedure and a higher resolution than metaphase-CGH. Moreover, oligonucleotide array-CGH was able to define extra segmental imbalances in 14.7% of the blastomeres and it better determined the specific unbalanced chromosome regions due to a higher resolution of the technique (≈20 kb). Applicability of oligonucleotide array-CGH for Preimplantation Genetic Diagnosis has been demonstrated in two cases of Robertsonian translocation carriers 45,XY,der(13;14)(q10;q10). Transfer of euploid embryos was performed in both cases and pregnancy was achieved by one of the couples. This is the first time that an oligonucleotide array-CGH approach has been successfully applied to Preimplantation Genetic Diagnosis for balanced chromosome rearrangement carriers. PMID:25415307

  5. 4th Optimization Day

    CERN Document Server

    Eberhard, Andrew; Ralph, Daniel; Glover, Barney M

    1999-01-01

    Although the monograph Progress in Optimization I: Contributions from Aus­ tralasia grew from the idea of publishing a proceedings of the Fourth Optimiza­ tion Day, held in July 1997 at the Royal Melbourne Institute of Technology, the focus soon changed to a refereed volume in optimization. The intention is to publish a similar book annually, following each Optimization Day. The idea of having an annual Optimization Day was conceived by Barney Glover; the first of these Optimization Days was held in 1994 at the University of Ballarat. Barney hoped that such a yearly event would bring together the many, but widely dispersed, researchers in Australia who were publishing in optimization and related areas such as control. The first Optimization Day event was followed by similar conferences at The University of New South Wales (1995), The University of Melbourne (1996), the Royal Melbourne Institute of Technology (1997), and The University of Western Australia (1998). The 1999 conference will return to Ballarat ...

  6. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD for monogenic disorder

    Directory of Open Access Journals (Sweden)

    Abdelkrim Hmadcha

    2016-05-01

    Full Text Available From 106 human blastocyts donate for research after in vitro fertilization (IVF and preimplantation genetic diagnosis (PGD for monogenetic disorder, 3 human embryonic stem cells (hESCs HVR1, HVR2 and HVR3 were successfully derived. HVR1 was assumed to be genetically normal, HVR2 carrying Becker muscular dystrophy and HVR3 Hemophilia B. Despite the translocation t(9;15(q34.3;q14 detected in HVR2, all the 3 cell lines were characterised in vitro and in vivo as normal hESCs lines and were registered in the Spanish Stem Cell Bank.

  7. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder

    OpenAIRE

    Abdelkrim Hmadcha; Yolanda Aguilera; Maria Dolores Lozano-Arana; Nuria Mellado; Javier Sánchez; Cristina Moya; Luis Sánchez-Palazón; Jose Palacios; Guillermo Antiñolo; Bernat Soria

    2016-01-01

    From 106 human blastocyts donate for research after in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for monogenetic disorder, 3 human embryonic stem cells (hESCs) HVR1, HVR2 and HVR3 were successfully derived. HVR1 was assumed to be genetically normal, HVR2 carrying Becker muscular dystrophy and HVR3 Hemophilia B. Despite the translocation t(9;15)(q34.3;q14) detected in HVR2, all the 3 cell lines were characterised in vitro and in vivo as normal hESCs lines and were r...

  8. The latest development in preimplantation genetic diagnosis%植入前遗传学诊断技术研究的新进展

    Institute of Scientific and Technical Information of China (English)

    徐艳文; 庄广伦

    2004-01-01

    近二十余年来人类对自身生殖过程的认识有了巨大的进步。而同期发展起来的辅助生殖技术与分子遗传学技术的有机结合,使人们能够在种植之前的早期胚胎中取出部分细胞检测疾病,从而筛选出正常胚胎进行宫腔内移植,即植入前遗传学诊断(preimplantation genetic diagllosis,PGD)。

  9. Correlation of the sperm penetration assay (SPA and miscarriage after assisted reproduction: The potential use of spa as a new criterion for preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Gradistanac Jelena

    2011-01-01

    Full Text Available We analyzed 93 couples undergoing male screening with the Sperm Penetration Assay (SPA before in vitro fertilization and intracytoplasmic sperm injection (ICSI, to determine the accuracy of SPA for subsequent embryonic development, incidence of pregnancy and miscarriage rates (SAB. ICSI patients with the lowest SPA scores had significantly higher incidences of Sthan did patients in the other SPA groups. Sperm quality is higher with better SPA scores. Poor sperm quality has increased incidence of chromosomal abnormalities and is associated with early fetal loss. Couples with negative SPA are candidates for preimplantation genetic diagnosis, to reduce the incidence of SAB.

  10. ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS)

    DEFF Research Database (Denmark)

    Harton, G L; Magli, M C; Lundin, K

    2011-01-01

    In 2005, the European Society for Human Reproduction and Embryology (ESHRE) Preimplantation Genetic Diagnosis (PGD) Consortium published a set of Guidelines for Best Practice to give information, support and guidance to potential, existing and fledgling PGD programmes (Thornhill AR, De Die...... have seen the introduction of a number of new technologies as well as the evolution of current techniques. Additionally, in light of ESHRE's recent advice on how practice guidelines should be written and formulated, the Consortium believed it was timely to revise and update the PGD guidelines. Rather...

  11. Jupiter Night and Day

    Science.gov (United States)

    2001-01-01

    Day and night side narrow angle images taken on January 1, 2001 illustrating storms visible on the day side which are the sources of visible lightning when viewed on the night side. The images have been enhanced in contrast. Note the two day-side occurrences of high clouds, in the upper and lower parts of the image, are coincident with lightning storms seen on the darkside. The storms occur at 34.5 degrees and 23.5 degrees North latitude, within one degree of the latitudes at which similar lightning features were detected by the Galileo spacecraft. The images were taken at different times. The storms' longitudinal separation changes from one image to the next because the winds carrying them blow at different speeds at the two latitudes.

  12. Day of Remembrance

    Science.gov (United States)

    Uri, John

    2018-01-01

    Every year in late January, NASA holds a Day of Remembrance, honoring the astronauts lost in three major space flight accidents: Apollo 1, Challenger and Columbia. In an odd tragic coincidence, all three of the accidents happened in late January or early February, although many years apart: Apollo 1 on January 27, 1967; Challenger on January 28, 1986; and Columbia on February 1, 2003. While the day is a solemn one to commemorate the astronauts who lost their lives, it is also a day to reflect on the errors that led to the accidents and to remind all NASA workers and managers to be ever vigilant so that preventable accidents don't happen again.

  13. Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

    Science.gov (United States)

    Dreesen, Jos; Destouni, Aspasia; Kourlaba, Georgia; Degn, Birte; Mette, Wulf Christensen; Carvalho, Filipa; Moutou, Celine; Sengupta, Sioban; Dhanjal, Seema; Renwick, Pamela; Davies, Steven; Kanavakis, Emmanouel; Harton, Gary; Traeger-Synodinos, Joanne

    2014-01-01

    Preimplantation genetic diagnosis (PGD) for monogenic disorders currently involves polymerase chain reaction (PCR)-based methods, which must be robust, sensitive and highly accurate, precluding misdiagnosis. Twelve adverse misdiagnoses reported to the ESHRE PGD-Consortium are likely an underestimate. This retrospective study, involving six PGD centres, assessed the validity of PCR-based PGD through reanalysis of untransferred embryos from monogenic-PGD cycles. Data were collected on the genotype concordance at PGD and follow-up from 940 untransferred embryos, including details on the parameters of PGD cycles: category of monogenic disease, embryo morphology, embryo biopsy and genotype assay strategy. To determine the validity of PCR-based PGD, the sensitivity (Se), specificity (Sp) and diagnostic accuracy were calculated. Stratified analyses were also conducted to assess the influence of the parameters above on the validity of PCR-based PGD. The analysis of overall data showed that 93.7% of embryos had been correctly classified at the time of PGD, with Se of 99.2% and Sp of 80.9%. The stratified analyses found that diagnostic accuracy is statistically significantly higher when PGD is performed on two cells versus one cell (P=0.001). Se was significantly higher when multiplex protocols versus singleplex protocols were applied (P=0.005), as well as for PGD applied on cells from good compared with poor morphology embryos (P=0.032). Morphology, however, did not affect diagnostic accuracy. Multiplex PCR-based methods on one cell, are as robust as those on two cells regarding false negative rate, which is the most important criteria for clinical PGD applications. Overall, this study demonstrates the validity, robustness and high diagnostic value of PCR-based PGD. PMID:24301057

  14. Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing.

    Science.gov (United States)

    Kakourou, Georgia; Vrettou, Christina; Kattamis, Antonis; Destouni, Aspasia; Poulou, Myrto; Moutafi, Maria; Kokkali, Georgia; Pantos, Konstantinos; Davies, Stephen; Kitsiou-Tzeli, Sophia; Kanavakis, Emmanuel; Traeger-Synodinos, Joanne

    2016-01-01

    Preimplantation genetic diagnosis (PGD) to select histocompatible siblings to facilitate curative haematopoeitic stem-cell transplantation (HSCT) is now an acceptable option in the absence of an available human leukocyte antigen (HLA) compatible donor. We describe a case where the couple who requested HLA-PGD, were both carriers of two serious haematological diseases, beta-thalassaemia and sideroblastic anaemia. Their daughter, affected with sideroblastic anaemia, was programmed to have HSCT. A multiplex-fluorescent-touchdown-PCR protocol was optimized for the simultaneous amplification of: the two HBB-gene mutated regions (c.118C> T, c.25-26delAA), four short tandem repeats (STRs) in chr11p15.5 linked to the HBB gene, the SLC25A38 gene mutation (c.726C > T), two STRs in chr3p22.1 linked to the SLC25A38 gene, plus eleven informative STRs for HLA-haplotyping (chr6p22.1-21.3). This was followed by real-time nested PCR and high-resolution melting analysis (HRMA) for the detection of HBB and SLC25A38 gene mutations, as well as the analysis of all STRs on an automatic genetic analyzer (sequencer). The couple completed four clinical in vitro fertilization (IVF)/PGD cycles. At least one matched unaffected embryo was identified and transferred in each cycle. A twin pregnancy was established in the fourth PGD cycle and genotyping results at all loci were confirmed by prenatal diagnosis. Two healthy baby girls were delivered at week 38 of pregnancy. The need to exclude two familial disorders for HLA-PGD is rarely encountered. The methodological approach described here is fast, accurate, clinically-validated, and of relatively low cost.

  15. [Analysis of clinical outcomes of different embryo stage biopsy in array comparative genomic hybridization based preimplantation genetic diagnosis and screening].

    Science.gov (United States)

    Shen, J D; Wu, W; Shu, L; Cai, L L; Xie, J Z; Ma, L; Sun, X P; Cui, Y G; Liu, J Y

    2017-12-25

    Objective: To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods: The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles. Chromosomal analysis was performed by array-CGH technology combined with whole genome amplification. Single embryo transfer was performed in all transfer cycles. Live birth rate was calculated as the main clinical outcomes. Results: The embryo diagnosis rate of PGD/PGS by array-CGH were 96.9%-99.1%. In PGD biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were 50.0%(58/116) and 37.2%(58/156) in cleavage-stage-biopsy group, 67.5%(85/126) and 51.8%(85/164) in trophectoderm-biopsy group (both P 0.05). Conclusions: High diagnosis rate and idea live birth rate are achieved in PGD/PGS cycles based on array-CGH technology. The live birth rate of trophectoderm-biopsy group is significantly higher than that of cleavage-stage-biopsy group in PGD cycles; the efficiency of trophectoderm-biopsy is better.

  16. Preimplantation diagnosis to create 'saviour siblings': a critical discussion of the current and future legal frameworks in South Africa.

    Science.gov (United States)

    Strode, Ann; Soni, Sheetal

    2011-12-14

    Pre-implantation genetic diagnosis (PGD) is a technology used in conjunction with in vitro fertilisation to screen embryos for genetic conditions prior to transfer. It was initially developed to screen mutations for severe, irreversible, genetic conditions. Currently, PGD makes it possible to select against more than 100 different genetic conditions. It has been proposed as a method for creating a tissue-matched child who can in turn serve as a compatible stem cell donor to save a sick sibling in need of a stem cell transplant. The advantage of this method is that it provides genetic information before implantation of an embryo into the womb, making it possible to ensure that only tissue-matched embryos are transferred to the uterus. A couple can therefore avoid the difficult choice of either terminating the pregnancy at a later point if the fetus is not a match, or extending their family again in the hope that their next child will be tissue compatible. Many people have expressed disapproval of the use of PGD for this purpose, and it is associated with many conflicting interests including religion, ethics as well as legal regulation. In order to manage these issues some jurisdictions have created legal frameworks to regulate the use of this technology. Many of these are modelled on the UK's Human Fertilisation and Embryology Authority and its guardian legislation. This paper critiques the current and future South African legal framework to establish whether it is able to adequately regulate the use of PGD as well as guard against misuse of the technology. It concludes that changes are required to the future framework in order to ensure that it regulates the circumstances in which PGD may occur and that the Minister of Health should act expediently in finalising draft regulations which will regulate PGD in the future.

  17. Religious Scholars' Attitudes and Views on Ethical Issues Pertaining to Pre-Implantation Genetic Diagnosis (PGD) in Malaysia.

    Science.gov (United States)

    Olesen, A; Nor, S N; Amin, L

    2016-09-01

    Pre-Implantation Genetic Diagnosis (PGD) represents the first fusion of genomics and assisted reproduction and the first reproductive technology that allows prospective parents to screen and select the genetic characteristics of their potential offspring. However, for some, the idea that we can intervene in the mechanisms of human existence at such a fundamental level can be, at a minimum, worrying and, at most, repugnant. Religious doctrines particularly are likely to collide with the rapidly advancing capability for science to make such interventions. This paper focuses on opinions and arguments of selected religious scholars regarding ethical issues pertaining to PGD. In-depth interviews were conducted with religious scholars from three different religious organizations in the Klang Valley, Malaysia. Findings showed that Christian scholars are very sceptical of the long-term use of PGD because of its possible effect on the value of humanity and the parent-children relationship. This differs from Islamic scholars, who view PGD as God-given knowledge in medical science to further help humans understand medical genetics. For Buddhist scholars, PGD is considered to be new medical technology that can be used to save lives, avoid suffering, and bring happiness to those who need it. Our results suggest that it is important to include the opinions and views of religious scholars when it comes to new medical technologies such as PGD, as their opinions will have a significant impact on people from various faiths, particularly in a multi-religious country like Malaysia where society places high value on marital relationships and on the traditional concepts of family.

  18. Histone variant H3.3-mediated chromatin remodeling is essential for paternal genome activation in mouse preimplantation embryos.

    Science.gov (United States)

    Kong, Qingran; Banaszynski, Laura A; Geng, Fuqiang; Zhang, Xiaolei; Zhang, Jiaming; Zhang, Heng; O'Neill, Claire L; Yan, Peidong; Liu, Zhonghua; Shido, Koji; Palermo, Gianpiero D; Allis, C David; Rafii, Shahin; Rosenwaks, Zev; Wen, Duancheng

    2018-03-09

    Derepression of chromatin-mediated transcriptional repression of paternal and maternal genomes is considered the first major step that initiates zygotic gene expression after fertilization. The histone variant H3.3 is present in both male and female gametes and is thought to be important for remodeling the paternal and maternal genomes for activation during both fertilization and embryogenesis. However, the underlying mechanisms remain poorly understood. Using our H3.3B-HA-tagged mouse model, engineered to report H3.3 expression in live animals and to distinguish different sources of H3.3 protein in embryos, we show here that sperm-derived H3.3 (sH3.3) protein is removed from the sperm genome shortly after fertilization and extruded from the zygotes via the second polar bodies (PBII) during embryogenesis. We also found that the maternal H3.3 (mH3.3) protein is incorporated into the paternal genome as early as 2 h postfertilization and is detectable in the paternal genome until the morula stage. Knockdown of maternal H3.3 resulted in compromised embryonic development both of fertilized embryos and of androgenetic haploid embryos. Furthermore, we report that mH3.3 depletion in oocytes impairs both activation of the Oct4 pluripotency marker gene and global de novo transcription from the paternal genome important for early embryonic development. Our results suggest that H3.3-mediated paternal chromatin remodeling is essential for the development of preimplantation embryos and the activation of the paternal genome during embryogenesis. © 2018 by The American Society for Biochemistry and Molecular Biology, Inc.

  19. Increase of essential amino acids in the bovine uterine lumen during preimplantation development.

    Science.gov (United States)

    Groebner, Anna E; Rubio-Aliaga, Isabel; Schulke, Katy; Reichenbach, Horst D; Daniel, Hannelore; Wolf, Eckhard; Meyer, Heinrich H D; Ulbrich, Susanne E

    2011-05-01

    Amino acids (AAs) are crucial for the developing conceptus prior to implantation. To provide insights into the requirements of the bovine embryo, we determined the AA composition of the uterine fluid. At days 12, 15, and 18 post-estrus, the uteri of synchronized pregnant and non-pregnant Simmental heifers were flushed for the analysis of 41 AAs and their derivatives by liquid chromatography-tandem mass spectrometry. The ipsilateral endometrium was sampled for quantitative PCR. In addition to a pregnancy-dependent increase of the essential AAs (P<0.01), we detected elevated concentrations for most non-essential proteinogenic AAs. Histidine (His) and the expression of the His/peptide transporter solute carrier 15A3 (SLC15A3) were significantly increased at day 18 of pregnancy in vivo. In addition, SLC15A3 was predominantly stimulated by trophoblast-derived interferon-τ in stroma cells of an in vitro co-culture model of endometrial cells. Our results show an increased concentration of AAs most likely to optimally provide the elongating pre-attachment conceptus with nutrients.

  20. Marketing Your Day Camp.

    Science.gov (United States)

    Coleman, George

    1997-01-01

    Marketing strategies for day camps include encouraging camp staff to get involved in organizations involving children, families, and communities; holding camp fairs; offering the use of camp facilities to outside groups; hosting sport leagues and local youth outings; planning community fairs; and otherwise involving the camp in the community. (LP)

  1. Fabulous Weather Day

    Science.gov (United States)

    Marshall, Candice; Mogil, H. Michael

    2007-01-01

    Each year, first graders at Kensington Parkwood Elementary School in Kensington, Maryland, look forward to Fabulous Weather Day. Students learn how meteorologists collect data about the weather, how they study wind, temperature, precipitation, basic types/characteristics of clouds, and how they forecast. The project helps the students grow in…

  2. Every Child, Every Day

    Science.gov (United States)

    Allington, Richard L.; Gabriel, Rachael E.

    2012-01-01

    We know more now than we ever did before about how to make every child a successful reader, write Allington and Gabriel in this research review. Yet, few students regularly receive the best reading instruction we know how to give. The authors present research supporting their recommendation that every child, every day, should (1) read something he…

  3. NATIONAL HEARING DAY

    CERN Multimedia

    2003-01-01

    The 12th of June 2003 Is the French National Hearing Day. The Medical Service invites everyone working at CERN to come and have an ear test at the infirmary. Bld. 57, ground floor, between 9h00 and 16h00 Tel. 73802

  4. National hearing day

    CERN Multimedia

    2003-01-01

    The 12th of June 2003 Is the French National Hearing Day. The Medical Service invites everyone working at CERN to come and have an ear test at the infirmary. Bld. 57, ground floor, between 9h00 and 16h00 Tel. 73802

  5. CERN openlab Open Day

    CERN Multimedia

    Purcell, Andrew Robert

    2015-01-01

    The CERN openlab Open Day took place on 10 June, 2015. This was the first in a series of annual events at which research and industrial teams from CERN openlab can present their projects, share achievements, and collect feedback from their user communities.

  6. Ten-day rule

    International Nuclear Information System (INIS)

    Knox, E.G.; Stewart, A.M.; Kneale, G.W.; Gilman, E.A.

    1987-01-01

    The authors argue against R.H. Mole's paper (Lancet, Dec. 12 1987), supporting the relaxation of ICRP recommendations and the DHSS decision to withdraw the 10 day rule in relation to diagnostic radiography for menstruating women, and draw attention to the recent refinement of estimates of the enhanced risk of childhood cancers, following diagnostic radiography during pregnancy. (U.K.)

  7. National HIV Testing Day

    Centers for Disease Control (CDC) Podcasts

    Dr. Kevin A. Fenton, Director of CDC's National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, discusses National HIV Testing Day, an annual observance which raises awareness of the importance of knowing one's HIV status and encourages at-risk individuals to get an HIV test.

  8. 90-Day Cycle Handbook

    Science.gov (United States)

    Park, Sandra; Takahashi, Sola

    2013-01-01

    90-Day Cycles are a disciplined and structured form of inquiry designed to produce and test knowledge syntheses, prototyped processes, or products in support of improvement work. With any type of activity, organizations inevitably encounter roadblocks to improving performance and outcomes. These barriers might include intractable problems at…

  9. World Heart Day

    Centers for Disease Control (CDC) Podcasts

    2009-09-01

    For World Heart Day, learn more about what heart-healthy steps you can take in the workplace.  Created: 9/1/2009 by National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 9/9/2009.

  10. Radiochemistry days; Journees radiochimie

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1998-09-01

    This document provides the 44 papers (transparencies used during the presentations and posters) presented at the Radiochemistry Days, held September 3-4, 1998 in Nantes, France. The main studied topics were problematic questions concerning the nuclear fuel cycle and in particular the management, storage of radioactive wastes and the environmental impact. (O.M.)

  11. The Day Hospitals Organisation

    African Journals Online (AJOL)

    1974-05-25

    May 25, 1974 ... costs and the long period taken in planning before con- struction (which in itself takes ... in the Peninsula and near metropolitan Cape Town, where the old 'Free ..... At the invitation of the Red Cross War Memorial. Children's ...

  12. One Day on Earth

    CERN Multimedia

    2011-01-01

    In collaboration with the CineGlobe Film Festival, the One Day on Earth global film project invites you to share your story of scientific inspiration, scientific endeavors and technological advancement on 11 November 2011 (11.11.11).   Technology in the 21st century continuously inspires us to re-imagine the world. From outer-space to cyberspace, new ideas that we hope will improve the lives of future generations keep us in a state of change. However, these new technologies may alter the nature of our shared existence in ways not yet known. On 11.11.11, we invite you to record the exciting ways that science is a part of your life, together with people around the world who will be documenting their lives on this day of global creation. See www.onedayonearth.org for details on how to participate.

  13. CERN Heart Days

    CERN Multimedia

    2003-01-01

    14 & 15 OCTOBER 2003 The Medical Service and the Fire Brigade invite everyone working at CERN to participate in the above event. INFIRMARY 9 am to 16.30 pm Building 57, ground floor No need to book HEALTHY HEART? Evaluation of personal cardiac risks through the monitoring of: Blood pressure Cholesterol and sugar levels Body Mass Index ... and more Leaflets, information and advice concerning cardiac issues FIRE BRIGADE 9 to 12am - Building 65 Please book (limited to 15 people/day) FIRST AID COURSES What to do in a Cardiac Emergency (3 h. duration) Places are limited and on reservation only (15 people/day). To book, e-mail the Medical Services on: service.medical@cern.ch

  14. CERN Heart Days

    CERN Multimedia

    2003-01-01

    14 & 15 OCTOBER 2003 The Medical Service and the Fire Brigade invite everyone working at CERN to participate in the above event. INFIRMARY 9 am to 16.30 pm Building 57, ground floor no need to book HEALTHY HEART? • Evaluation of personal cardiac risks through the monitoring of: Blood pressure Cholesterol and sugar levels Body Mass Index ... and more • Leaflets, information and advice concerning cardiac issues FIRE BRIGADE 9 to 12 am - Building 65 Please book (limited to 15 people/day) FIRST AID COURSES • What to do in a Cardiac Emergency (3 h. duration) Places are limited and on reservation only (15 people/day). To book, e-mail the Medical Services on: service.medical@cern.ch

  15. Computer Security Day

    CERN Multimedia

    CERN Bulletin

    2010-01-01

      Viruses, phishing, malware and cyber-criminals can all threaten your computer and your data, even at CERN! Experts will share their experience with you and offer solutions to keep your computer secure. Thursday, 10 June 2010, 9.30, Council Chamber Make a note in your diary! Presentations in French and English: How do hackers break into your computer? Quels sont les enjeux et conséquences des attaques informatiques contre le CERN ? How so criminals steal your money on the Internet? Comment utiliser votre ordinateur de manière sécurisée ? and a quiz: test your knowledge and win one of the many prizes that will be on offer! For more information and to follow the day's events via a live webcast go to: http://cern.ch/SecDay.  

  16. Why National Biomechanics Day?

    Science.gov (United States)

    DeVita, Paul

    2018-04-11

    National Biomechanics Day (NBD) seeks to expand the influence and impact of Biomechanics on our society by expanding the awareness of Biomechanics among young people. NBD will manifest this goal through worldwide, synchronized and coordinated celebrations and demonstrations of all things Biomechanics with high school students. NBD invites all Biomechanists to participate in NBD 2018, http://nationalbiomechanicsday.asbweb.org/. Copyright © 2018 Elsevier Ltd. All rights reserved.

  17. Viva il GIS Day!

    Directory of Open Access Journals (Sweden)

    Redazione Redazione

    2007-03-01

    Full Text Available Il GIS Day è sponsorizzato oltre che da ESRI, dalla National Geographic Society, dalla Association of American Geographers, dalla UCGIS (University Consortium for Geographic Information Science, dalla United States Geological Survey e dalla Library of Congress. Il tutto nasce nel corso della Geography Awareness Week, terza settimana di novembre che nel 1987 il Presidente degli Stati Uniti Ronald Reagan stabilì dovesse essere dedicata alla diffusione della cultura geografica.

  18. 'EU divertor celebration day'

    International Nuclear Information System (INIS)

    Merola, M.

    2002-01-01

    The meeting 'EU divertor celebration day' organized on 16 January 2002 at Plansee AG, Reutte, Austria was held on the occasion of the completion of manufacturing activities of a complete set of near full-scale prototypes of divertor components including the vertical target, the dome liner and the cassette body. About 30 participants attended the meeting including Dr. Robert Aymar, ITER Director, representatives from EFDA, CEA, ENEA, IPP and others

  19. World water day

    International Nuclear Information System (INIS)

    2005-01-01

    The symposium on world water day for the year 2005 was held on 22nd March by the Pakistan Engineering congress in collaboration with Water and Power Development Authority (WAPDA). Six technical papers by engineers/experts presented on the diverse fields from large dams to drinking water and public hygiene. Paper published in this volume are open for written discussion. (orig./A.B.)

  20. National HIV Testing Day

    Centers for Disease Control (CDC) Podcasts

    2011-06-09

    Dr. Kevin A. Fenton, Director of CDC's National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, discusses National HIV Testing Day, an annual observance which raises awareness of the importance of knowing one's HIV status and encourages at-risk individuals to get an HIV test.  Created: 6/9/2011 by National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention (NCHHSTP).   Date Released: 6/9/2011.

  1. Can a genetically-modified organism-containing diet influence embryo development? A preliminary study on pre-implantation mouse embryos

    Directory of Open Access Journals (Sweden)

    B Cisterna

    2009-08-01

    Full Text Available In eukaryotic cells, pre-mRNAs undergo several transformation steps to generate mature mRNAs. Recent studies have demonstrated that a diet containing a genetically modified (GM soybean can induce modifications of nuclear constituents involved in RNA processing in some tissues of young, adult and old mice. On this basis, we have investigated the ultrastructural and immunocytochemical features of pre-implantation embryos from mice fed either GM or non- GM soybean in order to verify whether the parental diet can affect the morpho-functional development of the embryonic ribonucleoprotein structural constituents involved in premRNA pathways. Morphological observations revealed that the general aspect of embryo nuclear components is similar in the two experimental groups. However, immunocytochemical and in situ hybridization results suggest a temporary decrease of pre-mRNA transcription and splicing in 2-cell embryos and a resumption in 4-8-cell embryos from mice fed GM soybean; moreover, pre-mRNA maturation seems to be less efficient in both 2-cell and 4-8-cell embryos from GM-fed mice than in controls. Although our results are still preliminary and limited to the pre-implantation phases, the results of this study encourage deepening on the effects of food components and/or contaminants on embryo development.

  2. Can a genetically-modified organism-containing diet influence embryo development? A preliminary study on pre-implantation mouse embryos.

    Science.gov (United States)

    Cisterna, B; Flach, F; Vecchio, L; Barabino, S M L; Battistelli, S; Martin, T E; Malatesta, M; Biggiogera, M

    2008-01-01

    In eukaryotic cells, pre-mRNAs undergo several transformation steps to generate mature mRNAs. Recent studies have demonstrated that a diet containing a genetically modified (GM) soybean can induce modifications of nuclear constituents involved in RNA processing in some tissues of young, adult and old mice. On this basis, we have investigated the ultrastructural and immunocytochemical features of pre-implantation embryos from mice fed either GM or non- GM soybean in order to verify whether the parental diet can affect the morpho-functional development of the embryonic ribonucleoprotein structural constituents involved in pre-mRNA pathways. Morphological observations revealed that the general aspect of embryo nuclear components is similar in the two experimental groups. However, immunocytochemical and in situ hybridization results suggest a temporary decrease of pre-mRNA transcription and splicing in 2-cell embryos and a resumption in 4-8-cell embryos from mice fed GM soybean; moreover, pre-mRNA maturation seems to be less efficient in both 2-cell and 4-8-cell embryos from GM-fed mice than in controls. Although our results are still preliminary and limited to the pre-implantation phases, the results of this study encourage deepening on the effects of food components and/or contaminants on embryo development.

  3. From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience

    Directory of Open Access Journals (Sweden)

    Giovanni Monni

    2018-02-01

    Full Text Available The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy. It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years. Trans-abdominal chorionic villous sampling was preferred due to lower complication risks and early diagnosis. Chorionic villous DNA was analyzed by PCR technique. 2138 fetuses affected by β-thalassemia were diagnosed. Women opted for termination of the pregnancy (TOP in 98.2% of these cases. Pre-implantation genetic diagnosis (PGD was proposed to couples at risk to avoid TOP. A total of 184 PGD were performed. Initially, the procedure was exclusively offered to infertile couples, according to the law in force. The success rate of pregnancies increased from 11.1% to 30.8% when, crucial law changes were enacted, and PGD was offered to fertile women as well. Forty years of β-thalassemia prevention programs in Sardinia have demonstrated the important decrease of this severe genetic disorder.

  4. From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience.

    Science.gov (United States)

    Monni, Giovanni; Peddes, Cristina; Iuculano, Ambra; Ibba, Rosa Maria

    2018-02-20

    The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years. Trans-abdominal chorionic villous sampling was preferred due to lower complication risks and early diagnosis. Chorionic villous DNA was analyzed by PCR technique. 2138 fetuses affected by β-thalassemia were diagnosed. Women opted for termination of the pregnancy (TOP) in 98.2% of these cases. Pre-implantation genetic diagnosis (PGD) was proposed to couples at risk to avoid TOP. A total of 184 PGD were performed. Initially, the procedure was exclusively offered to infertile couples, according to the law in force. The success rate of pregnancies increased from 11.1% to 30.8% when, crucial law changes were enacted, and PGD was offered to fertile women as well. Forty years of β-thalassemia prevention programs in Sardinia have demonstrated the important decrease of this severe genetic disorder.

  5. Pregnancy after preimplantation diagnosis for a deletion in the dystrophin gene by polymerase chain reaction in embryos obtained after intracytoplasmic sperm injection

    Energy Technology Data Exchange (ETDEWEB)

    Lissens, W.; Liu, J.; Van Broeckhoven, C. [University Hospital, Brussels (Belgium)] [and others

    1994-09-01

    Duchenne muscular dystrophy (DMD) is one of the most common X-linked recessive diseases. In order to be able to perform a DMD-specific preimplantation diagnosis (PID) in a female carrier of a deletion of exons 3 to 18 in the dystrophin gene, we have developed a PCR assay to detect the deletion based on sequences of exon 17. The efficiency of this PCR was evaluated on 50 single blastomeres from 12 normal control embryos and on 41 blastomeres for 9 male and 3 female embryos from the female DMD carrier, obtained after a first preimplantation diagnosis by sexing. The exon 17 region was amplified with 100% efficiency, except in all 21 blastomeres from 6 male embryos from the carrier where no PCR signals were observed. The negative results in these blastomeres were interpreted as being found only in male embryos carrying the deletion. Intracytoplasmic sperm injection was carried out on the carrier`s metaphase II oocytes retrieved after ovarian stimulation. Embryos were analyzed for the presence of exon 17 and 2 male embryos were found to be deleted, while 4 embryos showed normal amplification signals. Three of the latter embryos were replaced, resulting in a singleton pregnancy. Amniotic cell analysis showed a normal female karyotype and DNA analysis indicated a non-carrier.

  6. Histopathological analysis of pre-implantation donor kidney biopsies: association with graft survival and function in one year post-transplantation

    Directory of Open Access Journals (Sweden)

    Karla Lais Pêgas

    2014-04-01

    Full Text Available Introduction: Pre-implantation kidney biopsy is a decision-making tool when considering the use of grafts from deceased donors with expanded criteria, implanting one or two kidneys and comparing this to post-transplantation biopsies. The role of histopathological alterations in kidney compartments as a prognostic factor in graft survival and function has had conflicting results. Objective: This study evaluated the prevalence of chronic alterations in pre-implant biopsies of kidney grafts and the association of findings with graft function and survival in one year post-transplant. Methods: 110 biopsies were analyzed between 2006 and 2009 at Santa Casa de Porto Alegre, including live donors, ideal deceased donors and those with expanded criteria. The score was computed according to criteria suggested by Remuzzi. The glomerular filtration rate (GFR was calculated using the abbreviated MDRD formula. Results: No statistical difference was found in the survival of donors stratified according to Remuzzi criteria. The GFR was significantly associated with the total scores in the groups with mild and moderate alterations, and in the kidney compartments alone, by univariate analysis. The multivariate model found an association with the presence of arteriosclerosis, glomerulosclerosis, acute rejection and delayed graft function. Conclusion: Pre-transplant chronic kidney alterations did not influence the post-transplantation one-year graft survival, but arteriosclerosis and glomerulosclerosis is predictive of a worse GFR. Delayed graft function and acute rejection are independent prognostic factors.

  7. Utilization of endogenous fatty acid stores for energy production in bovine preimplantation embryos.

    Science.gov (United States)

    Sutton-McDowall, Melanie L; Feil, Deanne; Robker, Rebecca L; Thompson, Jeremy G; Dunning, Kylie R

    2012-05-01

    Although current embryo culture media are based on carbohydrate metabolism of embryos, little is known about metabolism of endogenous lipids. L-carnitine is a β-oxidation cofactor absent in most culture media. The objective was to investigate the influence of L-carnitine supplementation on bovine embryo development. Abattoir-derived bovine cumulus oocyte complexes were cultured and fertilized. Post-fertilization, presumptive zygotes were transferred into a basic cleavage medium ± carbohydrates (glucose, lactate and pyruvate) ± 5 mm L-carnitine and cultured for 4 days in vitro. In the absence of carbohydrates during culture, embryos arrested at the 2- and 4-cell stages. Remarkably, +L-carnitine increased development to the morula stage compared to +carbohydrates alone (P levels were higher and ATP: ADP ratio were 1.9-fold lower (main effect, P < 0.05) compared to embryos cultured in -L-carnitine. Therefore, we inferred that +L-carnitine embryos were more metabolically active, with higher rates of ATP-ADP conversion. In conclusion, L-carnitine supplementation supported precompaction embryo development and there was an additive effect of +L-carnitine +carbohydrates on early embryo development, most likely through increased β-oxidation within embryos. Crown Copyright © 2012. Published by Elsevier Inc. All rights reserved.

  8. Evolution of periodicity in periodical cicadas.

    Science.gov (United States)

    Ito, Hiromu; Kakishima, Satoshi; Uehara, Takashi; Morita, Satoru; Koyama, Takuya; Sota, Teiji; Cooley, John R; Yoshimura, Jin

    2015-09-14

    Periodical cicadas (Magicicada spp.) in the USA are famous for their unique prime-numbered life cycles of 13 and 17 years and their nearly perfectly synchronized mass emergences. Because almost all known species of cicada are non-periodical, periodicity is assumed to be a derived state. A leading hypothesis for the evolution of periodicity in Magicicada implicates the decline in average temperature during glacial periods. During the evolution of periodicity, the determinant of maturation in ancestral cicadas is hypothesized to have switched from size dependence to time (period) dependence. The selection for the prime-numbered cycles should have taken place only after the fixation of periodicity. Here, we build an individual-based model of cicadas under conditions of climatic cooling to explore the fixation of periodicity. In our model, under cold environments, extremely long juvenile stages lead to extremely low adult densities, limiting mating opportunities and favouring the evolution of synchronized emergence. Our results indicate that these changes, which were triggered by glacial cooling, could have led to the fixation of periodicity in the non-periodical ancestors.

  9. Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening : follow-up of a randomized controlled trial

    NARCIS (Netherlands)

    Beukers, Fenny; van der Heide, Maaike; Middelburg, Karin J.; Cobben, Jan Maarten; Mastenbroek, Sebastiaan; Breur, Rinske; van der Lee, Johanna H.; Hadders-Algra, Mijna; Bos, Arend F.; Kok, Joke H.

    Objective: To evaluate the effect of preimplantation genetic screening (PGS) on morphologic outcome in children. Design: Follow-up of a randomized controlled trial (RCT). Setting: University hospital. Patient(s): Two-year-old children born to mothers who participated in an RCT on the efficacy of

  10. Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening: follow-up of a randomized controlled trial

    NARCIS (Netherlands)

    Beukers, Fenny; van der Heide, Maaike; Middelburg, Karin J.; Cobben, Jan Maarten; Mastenbroek, Sebastiaan; Breur, Rinske; van der Lee, Johanna H.; Hadders-Algra, Mijna; Bos, Arend F.; Kok, Joke H.; Houtzager, Bregje A.; Repping, Sjoerd; Twisk, Moniek; van der Veen, Fulco; Haadsma, Maaike; Heineman, Maas Jan; van Hoften, Jacorina; Jongbloed-Pereboom, Marjolein; Keating, Paul; Seggers, Jorien

    2013-01-01

    To evaluate the effect of preimplantation genetic screening (PGS) on morphologic outcome in children. Follow-up of a randomized controlled trial (RCT). University hospital. Two-year-old children born to mothers who participated in an RCT on the efficacy of PGS: 50 children born after in vitro

  11. "A Day Without Immigrants"

    DEFF Research Database (Denmark)

    Heiskanen, Benita

    2009-01-01

    Abstract This article considers the debates surrounding the "Day Without Immigrants" protests organized in major U.S. cities on 1 May 2006, prompted by H.R. 4437, the Border Protection, Anti-Terrorism, and Illegal Immigration Control Act of 2005, from the multiple perspectives of scholars, pundits...... that the rhetoric used in these discourses pitted various class-based ethnoracial groups against each other not so much to tackle the proposed immigration bill but, rather, to comment on the ramifications of an increasingly multiracial United States. Udgivelsesdato: 01 December 2009...

  12. The women day storm

    OpenAIRE

    Parnowski, Aleksei; Polonska, Anna; Semeniv, Oleg

    2012-01-01

    On behalf of the International Women Day, the Sun gave a hot kiss to our mother Earth in a form of a full halo CME generated by the yesterday's double X-class flare. The resulting geomagnetic storm gives a good opportunity to compare the performance of space weather forecast models operating in near-real-time. We compare the forecasts of most major models and identify some common problems. We also present the results of our own near-real-time forecast models.

  13. CERN hearing day

    CERN Multimedia

    2005-01-01

    1 in 10 people suffer from hearing loss - do you? The Medical Service invites everyone working on the CERN site to participate in the NATIONAL HEARING DAY on: Thursday 10th March 2005 From 9am to 4pm The Infirmary, Blg. 57, Ground Floor We will be offering hearing tests (audiograms), as well as information and advice on hearing loss, tinnitus, etc. Deafness does not just affect the elderly: in Europe, 50% of the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing problems but PREVENTION IS POSSIBLE. For example, hearing protection devices can prevent 80% of tinnitus cases.

  14. CERN hearing day

    CERN Multimedia

    2005-01-01

    1 in 10 people suffer from hearing loss - do you? The Medical Service invites everyone working on CERN premises to participate in the National Hearing Day on: Thursday 10th March From 9am to 4pm The Infirmary, Blg. 57, Gr.Fl. We will be offering hearing tests (audiogram); information, advice on hearing loss, tinnitus and more. Deafness does not just affect the elderly: in Europe, 50% the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing loss. But PREVENTION IS POSSIBLE AND EFFECTIVE: for example, Hearing protection devices could reduce tinnitus cases by 80%.

  15. CERN hearing day

    CERN Document Server

    2005-01-01

    1 in 10 people suffer from hearing loss - do you? The Medical Service invites everyone working on CERN premises to participate in the National Hearing Day on: Thursday 10th March From 9am to 4pm The Infirmary, Blg. 57, Gr.Fl. We will be offering hearing tests (audiogram); information, advice on hearing loss, tinnitus and more. Deafness does not just affect the elderly: in Europe, 50% the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing loss. But prevention is possible and effective: for example, Hearing protection devices could reduce tinnitus cases by 80%.

  16. CERN hearing day

    CERN Multimedia

    2005-01-01

    1 in 10 people suffer from hearing loss ? do you? The Medical Service invites everyone working on the CERN site to participate in the NATIONAL HEARING DAY on: Thursday 10th March 2005 From 9am to 4pm The Infirmary, Blg. 57, Ground Floor We will be offering hearing tests (audiograms), as well as information and advice on hearing loss, tinnitus, etc. Deafness does not just affect the elderly: in Europe, 50% of the hearing-impaired are under the age of 55. Exposure to excessive noise is one of the main reasons for hearing problems but prevention is possible. For example, hearing protection devices can prevent 80% of tinnitus cases.

  17. Hard-hat day

    CERN Multimedia

    2003-01-01

    CERN will be organizing a special information day on Friday, 27th June, designed to promote the wearing of hard hats and ensure that they are worn correctly. A new prevention campaign will also be launched.The event will take place in the hall of the Main Building from 11.30 a.m. to 2.00 p.m., when you will be able to come and try on various models of hard hat, including some of the very latest innovative designs, ask questions and pass on any comments and suggestions.

  18. The Future Days

    OpenAIRE

    Cerezo Rodríguez, Carlos

    2014-01-01

    In this memorandum it will be read all the documentation related to the Final Project Degree of Carlos Cerezo Rodríguez, The Future Days. The objective of this project has been to realise a mini-game (in form of interactive animation in Flash). So that, it will rest prepared for his posterior upload to websites that offer these services. As it will be appreciated in the writing, the process of construction of the project has been made through a phase of planning and preproduction, a phase of ...

  19. Gis Day 2005

    Directory of Open Access Journals (Sweden)

    Esri Italia Esri Italia

    2005-10-01

    Full Text Available Si è svolto nelle Marche, ad Urbino, città simbolo del legame tra scienza e Rinascimento, il GIS DAY 2005; l’evento ha avuto il patrocinio di DAMAC – INTERREG SECUR SEA ed il supporto di: Regione Marche - Giunta Regionale, Contea di Zara (Croazia, Centro di Geobiologia - Università di Urbino, Forum delle Città dell’Adriatico e dello Ionio e Adriatic Action Plan 2020 ed ha sviluppato il tema dedicato ad “Un GIS interoperabile e internazionale”.

  20. Epigenetic Influences During the Periconception Period and Assisted Reproduction.

    Science.gov (United States)

    Amoako, Akwasi A; Nafee, Tamer M; Ola, Bolarinde

    2017-01-01

    The periconception period starts 6 months before conception and lasts until the tenth week of gestation. In this chapter, we will focus on epigenetic modifications to DNA and gene expression within this period and during assisted reproduction. There are two critical times during the periconception window when significant epigenetic 'reprogramming' occur: one during gametogenesis and another during the pre-implantation embryonic stage. Furthermore, assisted conception treatments, laboratory protocols and culture media can affect the embryo development and birth weights in laboratory animals. There is, however, an ongoing debate as to whether epigenetic changes in humans, causing embryo mal-development, placenta dysfunction and birth defects, result from assisted reproductive technologies or are consequences of pre-existing medical and/or genetic conditions in the parents. The periconception period starts from ovarian folliculogenesis, through resumption of oogenesis, fertilisation, peri-implantation embryo development, embryogenesis until the end of organogenesis. In men, it is the period from spermatogenesis to epididymal sperm storage and fertilisation. Gametes and developing embryos are sensitive to environmental factors during this period, and epigenetic modifications can occur in response to adverse lifestyles and environmental factors. We now know that lifestyle factors such as advanced parentage age, obesity or undernutrition, smoking, excessive alcohol and caffeine intake and recreational drugs used during gamete production and embryogenesis could induce epigenetic alterations, which could impact adversely on pregnancy outcomes and health of the offspring. Furthermore, these can also result in a permanent and irreversible effect in a dose-dependent manner, which can be passed on to the future generations.

  1. Preimplantation Factor (PIF Promotes HLA-G, -E, -F, -C Expression in JEG-3 Choriocarcinoma Cells and Endogenous Progesterone Activity

    Directory of Open Access Journals (Sweden)

    Miya Soukaina Hakam

    2017-10-01

    Full Text Available Background/Aims: Pregnancy success requires mandatory maternal tolerance of the semi/ allogeneic embryo involving embryo-derived signals. Expression levels of PreImplantation Factor (PIF, a novel peptide secreted by viable embryos, correlate with embryo development, and its early detection in circulation correlates with a favourable pregnancy outcome. PIF enhances endometrial receptivity to promote embryo implantation. Via the p53 pathway, it increases trophoblast invasion, improving cell survival / immune privilege. PIF also reduces spontaneous and LPS-induced foetal death in immune naïve murine model. We examined PIF effect on gene expression of human leukocyte antigen (HLA-G, -E -F and –C and the influence of PIF on local progesterone activity in JEG-3 choriocarcinoma cells. Methods: PIF and progesterone (P4 effects on JEG-3 cells surface and intracellular HLA molecules was tested using monoclonal antibodies, flow cytometry, and Western blotting. PIF and IL17 effects on P4 and cytokines secretion was determined by ELISA. PIF and P4 effects on JEG-3 cells proteome was examined using 2D gel staining followed by spot analysis, mass spectrometry and bioinformatic analysis. Results: In cytotrophoblastic JEG-3 cells PIF increased intracellular expression of HLA-G, HLA-F, HLA-E and HLA-C and surface expression of HLA-G, HLA-E and HLA-C in dose and time dependent manner. In case of HLA-E, -F results were confirmed also by Western blot. Proteome analysis confirmed an increase in HLA-G, pro-tolerance FOXP3+ regulatory T cells (Tregs, coagulation factors and complement regulator. In contrast, PIF reduced PRDX2 and HSP70s to negate oxidative stress and protein misfolding. PIF enhanced local progesterone activity, increasing steroid secretion and the receptor protein. It also promoted the secretion of the Th1/Th2 cytokines (IL-10, IL-1β, IL-8, GM-CSF and TGF-β1, resulting in improved maternal signalling. Conclusion: PIF can generate a pro

  2. Higgs Boson Pizza Day

    CERN Document Server

    Stefania Pandolfi

    2016-01-01

    CERN celebrated the fourth anniversary of the historical Higgs boson announcement with special pizzas.    400 pizzas were served on Higgs pizza day in Restaurant 1 at CERN to celebrate the fourth anniversary of the announcement of the discovery of the Higgs Boson (Image: Maximilien Brice/ CERN) What do the Higgs boson and a pizza have in common? Pierluigi Paolucci, INFN and CMS collaboration member, together with INFN president Fernando Ferroni found out the answer one day in Naples: the pizza in front of them looked exactly like a Higgs boson event display. A special recipe was then created in collaboration with the chef of the historic “Ettore” pizzeria in the St. Lucia area of Naples, and two pizzas were designed to resemble two Higgs boson decay channel event displays. The “Higgs Boson Pizza Day” was held on Monday, 4 July 2016, on the fourth anniversary of the announcement of the discovery of the Higgs boso...

  3. 2015 Barcelona Asteroid Day

    CERN Document Server

    Gritsevich, Maria; Palme, Herbert

    2017-01-01

    This volume is a compilation of the research presented at the International Asteroid Day workshop which was celebrated at Barcelona on June 30th, 2015. The proceedings discuss the beginning of a new era in the study and exploration of the solar system’s minor bodies. International Asteroid Day commemorates the Tunguska event of June 30th, 1908. The workshop’s goal was to promote the importance of dealing proactively with impact hazards from space. Multidisciplinary experts contributed to this discussion by describing the nature of comets and asteroids along with their offspring, meteoroids. New missions to return material samples of asteroids back to Earth such as Osiris-REx and Hayabusa 2, as well as projects like AIM and DART which will test impact deflection techniques for Potentially Hazardous Asteroids encounters were also covered. The proceedings include both an outreach level to popularize impact hazards and a scientific character which covers the latest knowledge on these topics, as well as offeri...

  4. A day to celebrate

    CERN Multimedia

    Laëtitia Pedroso

    2010-01-01

    After several weeks of preparations and hard work on the part of many people, the events to mark International Women's Day at CERN on 8 March were a genuine success. They were followed with great interest by the outside world, judging by the flurry of activity on twitter, various blogs and the media coverage they generated.   Women on shift in the CERN control rooms. Women were overwhelmingly in the majority at the controls of the experiments and accelerators throughout the day, as well as acting as the guides for all official visits. There was no shortage of enthusiasm! "I'm very happy that CERN has supported the project, and I'm especially encouraged by the enthusiastic response from everyone who's taken part", says Pauline Gagnon, a physicist from the Indiana University group and a member of the ATLAS collaboration, who was behind the idea. "I hope that this kind of initiative will help to show that women have a place in science and that young women thinkin...

  5. 5th Optimization Day

    CERN Document Server

    Mees, Alistair; Fisher, Mike; Jennings, Les

    2000-01-01

    'Optimization Day' (OD) has been a series of annual mini-conferences in Australia since 1994. The purpose of this series of events is to gather researchers in optimization and its related areas from Australia and their collaborators, in order to exchange new developments of optimization theories, methods and their applications. The first four OD mini-conferences were held in The Uni­ versity of Ballarat (1994), The University of New South Wales (1995), The University of Melbourne (1996) and Royal Melbourne Institute of Technology (1997), respectively. They were all on the eastern coast of Australia. The fifth mini-conference Optimization Days was held at the Centre for Ap­ plied Dynamics and Optimization (CADO), Department of Mathematics and Statistics, The University of Western Australia, Perth, from 29 to 30 June 1998. This is the first time the OD mini-conference has been held at the west­ ern coast of Australia. This fifth OD preceded the International Conference on Optimization: Techniques and Applica...

  6. Deciphering Periodic Methanol Masers

    Science.gov (United States)

    Stecklum, Bringfried; Caratti o Garatti, Alessio; Henning, Thomas; Hodapp, Klaus; Hopp, Ulrich; Kraus, Alex; Linz, Hendrik; Sanna, Alberto; Sobolev, Andrej; Wolf, Verena

    2018-05-01

    Impressive progress has been made in recent years on massive star formation, yet the involved high optical depths even at submm/mm wavelengths make it difficult to reveal its details. Recently, accretion bursts of massive YSOs have been identified to cause flares of Class II methanol masers (methanol masers for short) due to enhanced mid-IR pumping. This opens a new window to protostellar accretion variability, and implies that periodic methanol masers hint at cyclic accretion. Pinning down the cause of the periodicity requires joint IR and radio monitoring. We derived the first IR light curve of a periodic maser host from NEOWISE data. The source, G107.298+5.639, is an intermediate-mass YSO hosting methanol and water masers which flare every 34.5 days. Our recent joint K-band and radio observations yielded first but marginal evidence for a phase lag between the rise of IR and maser emission, respectively, and revealed that both NEOWISE and K-band light curves are strongly affected by the light echo from the ambient dust. Both the superior resolution of IRAC over NEOWISE and the longer wavelengths compared to our ground-based imaging are required to inhibit the distractive contamination by the light echo. Thus, we ask for IRAC monitoring of G107 to cover one flare cycle, in tandem with 100-m Effelsberg and 2-m Wendelstein radio and NIR observations to obtain the first high-quality synoptic measurements of this kind of sources. The IR-maser phase lag, the intrinsic shape of the IR light curves and their possible color variation during the cycle allow us to constrain models for the periodic maser excitation. Since methanol masers are signposts of intermediate-mass and massive YSOs, deciphering their variability offers a clue to the dynamics of the accretion-mediated growth of massive stars and their feedback onto the immediate natal environment. The Spitzer light curve of such a maser-hosting YSO would be a legacy science product of the mission.

  7. Day of Arts Philanthropy

    DEFF Research Database (Denmark)

    Lunde Jørgensen, Ida

    For the Day of Arts Philanthropy I will reflect on the instrumentalisation of art support in Denmark based on the findings from my thesis work (Jørgensen, 2016) investigating the underlyinglegitimations and institutional logics of two of the most significant foundations supporting visual art......, in Denmark, the private New Carlsberg Foundation and public Danish Arts Foundation.Drawing inspiration from neo-institutional theory (Friedland & Alford, 1991) and French pragmatic sociology (Boltanski & Thévenot, 2006), the thesis identifies the most central logics of legitimationunderlying art support......; the industrial, market, inspired, family, renown, civic, projective, emotional and temporal. The most prominent and consistently invoked instrumentalisations identified are theprofessional (industrial), artistic (inspired) and civic purposes of art support. The thesis shows that the instrumentalisations invoked...

  8. Injector MD Days 2017

    CERN Document Server

    Rumolo, G

    2017-01-01

    The Injector Machine Development (MD) days 2017 were held on 23-24 March, 2017, at CERN with thefollowing main goals:Give a chance to the MD users to present their results and show the relevant progress made in 2016 onseveral fronts.Provide the MD users and the Operation (OP) crews with a general overview on the outcome and theimpact of all ongoing MD activities.Identify the open questions and consequently define - with priorities - a list of machine studies in theinjectors for 2017 (covering the operational beams, LHC Injectors Upgrade, High Luminosity LHC,Physics Beyond Colliders, other projects).Create the opportunity to collect and document the highlights of the 2016 MDs and define the perspectivesfor 2017.Discuss how to make best use of the MD time, in particular let the main MD user express their wishesand see whether/how OP teams can contribute to their fulfilment.

  9. CERN Heart Days

    CERN Multimedia

    2003-01-01

    14 & 15 OCTOBER 2003 The Medical Service and the Fire Brigade invite everyone working at CERN to participate in the above event. INFIRMARY 9 am to 16.30 pm Building 57, ground floor HEALTHY HEART? ♥ Evaluation of personal cardiac risks through the monitoring of: • Blood pressure • Cholesterol and sugar levels • Body Mass Index ... and more ♥ Leaflets, information and advice concerning cardiac issues FIRE BRIGADE 9 to 12am Building 65 FIRST AID COURSES ♥ What to do in a Cardiac Emergency (3 h duration) Places are limited and on reservation only (15 people / day) To book, E-mail the Medical Services on: service.medical@cern.ch

  10. A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model.

    Science.gov (United States)

    Neupane, Jitesh; Vandewoestyne, Mado; Heindryckx, Björn; Ghimire, Sabitri; Lu, Yuechao; Qian, Chen; Lierman, Sylvie; Van Coster, Rudy; Gerris, Jan; Deroo, Tom; Deforce, Dieter; De Sutter, Petra

    2014-04-01

    What is the reliability of preimplantation genetic diagnosis (PGD) based on polar body (PB), blastomere or trophectoderm (TE) analysis in a heteroplasmic mitochondrial mouse model? The reliability of PGD to determine the level of mitochondrial DNA (mtDNA) heteroplasmy is questionable based on either the first or second PB analysis; however, PGD based on blastomere or TE analysis seems more reliable. PGD has been suggested as a technique to determine the level of mtDNA heteroplasmy in oocytes and embryos to avoid the transmission of heritable mtDNA disorders. A strong correlation between first PBs and oocytes and between second PBs and zygotes was reported in mice but is controversial in humans. So far, the levels of mtDNA heteroplasmy in first PBs, second PBs and their corresponding oocytes, zygotes and blastomeres, TE and blastocysts have not been analysed within the same embryo. We explored the suitability of PGD by comparing the level of mtDNA heteroplasmy between first PBs and metaphase II (MII) oocytes (n = 33), between first PBs, second PBs and zygotes (n = 30), and between first PBs, second PBs and their corresponding blastomeres of 2- (n = 10), 4- (n = 10) and 8-cell embryos (n = 11). Levels of mtDNA heteroplasmy in second PBs (n = 20), single blastomeres from 8-cell embryos (n = 20), TE (n = 20) and blastocysts (n = 20) were also compared. Heteroplasmic mice (BALB/cOlaHsd), containing mtDNA mixtures of BALB/cByJ and NZB/OlaHsd, were used in this study. The first PBs were biopsied from in vivo matured MII oocytes. The ooplasm was then subjected to ICSI. After fertilization, second PBs were biopsied and zygotes were cultured to recover individual blastomeres from 2-, 4- and 8-cell embryos. Similarly, second PBs were biopsied from in vivo fertilized zygotes and single blastomeres were biopsied from 8-cell stage embryos. The remaining embryo was cultured until the blastocyst stage to isolate TE cells. Polymerase chain reaction followed by restriction fragment

  11. Periods found in heat measurements obtained by calorimetry

    International Nuclear Information System (INIS)

    Jordan, K.C.

    1984-01-01

    During a span of 640 days, a periodicity of 1.5158 +- 0.0008 days was discovered in successive heater equilibria on Calorimeter No. 127. Measurements were taken at 12-h intervals, with occasional changes of exactly 3 or 6 h in the schedule of measurements. This schedule eliminated all other possible periods except a period of 0.150156 days. Periods of 1.519125 and 1.511283 days were discovered in data on the excess length of day as obtained by the US Naval Observatory over a period of 24 y. These two periods could equally well represent periods of 0.150189 and 0.150112 days, since measurements were obtained only once every 24 h. It is suggested that periods observed in sensitive calorimeters and in length of day data may be related. 1 reference, 6 figures, 5 tables

  12. The effect of Ni pre-implantation on surface morphology and optical absorption properties of Ag nanoparticles embedded in SiO2

    International Nuclear Information System (INIS)

    Shen, Yanyan; Qi, Ting; Qiao, Yu; Yu, Shengwang; Hei, Hongjun; He, Zhiyong

    2016-01-01

    Graphical abstract: - Highlights: • Ag concentration increased significantly due to the Ni pre-implantation. • Deposition and accumulation process of Ag atoms depends on Ni fluences. • The incorporation of Ni elements in Ag NPs can damp SPR absorption intensity. • AgNi alloy NPs embedded in SiO 2 have been created by sequentially implantation. • Unique SPR absorption with dual peaks centered at 406 nm and 563 nm was observed. - Abstract: The effect of Ni ion fluence on Ag nucleation and particle growth was investigated by sequentially implantation of 60 keV Ni ions at fluences of 1 × 10 16 , 5 × 10 16 , 1 × 10 17 ions/cm 2 and 70 keV Ag ions at a fluence of 5 × 10 16 ions/cm 2 . Due to the modification of the deposition and accumulation process of Ag implants caused by Ni pre-implantation, the surface morphology, structures, and optical absorption properties of the Ag nanoparticles (NPs) depends strongly on the Ni fluences. UV–vis absorption spectroscopy study showed that the introducing of Ni atoms lead to intensity decrease in the Ag SPR band. Remarkable local concentration increase of Ag profiles appeared for the sample pre-implanted by Ni ions of 5.0 × 10 16 ions/cm 2 . In particular, the AgNi alloy NPs with dual absorption peaks centered at 406 nm and 563 nm have been formed after 600 °C annealing in Ar atmosphere. However, at a low fluence of 1.0 × 10 16 ions/cm 2 , only small increase of the local Ag concentration than the Ag ions singly implanted sample can be observed. At a high fluence of 1.0 × 10 17 ions/cm 2 , lots Ag atoms are trapped close to the surface, which result in heavy sputtering loss of Ag atoms and the sublimation of Ag atoms after 600 °C annealing.

  13. Sexing of Mouse Preimplantation Embryos Using Polymerase Chain Reaction%运用PCR对小鼠植入前胚胎进行性别诊断

    Institute of Scientific and Technical Information of China (English)

    李汶; 陆长富; 卢光琇

    2001-01-01

    In order to determine the sex of mouse embryo, 1 or 2 blastomeres were biopsied from Kun-ming-white mouse preimplantation embryo at 4-8 cells stage. The gDNA of the single-blastomere was abstracted. According to the base sequence of 145C5, a repititive sequence of Y chromosome of mouse C57BL6, a pair of primer were asigned and synthesized. The gDNA was amplified using these primers. 108 mouse preimplantation embryos were sexed via this technique. 46 male embryos and 62 female embryos were transfered into five pseudopreganant mothers respectively. 4 male litters and 9 female litters were obtained. The diagnosis positive rate was 100%(4/4) and 70% (9/13)respectively. The result of PCR indecated that there was no difference between the repititive sequence of Y chromosome in mouse C57BL6 and Kun-ming-white mouse. The technique developed in this study might be further used for preimplantation genetic diagnosis of single-gene defects.%根据C57BL6小鼠Y染色体重复序列145C5的碱基顺序, 设计并合成一对引物, 运用PCR扩增昆明白小鼠植入前胚胎卵裂球DNA, 以确定其性别。共对108枚活检胚胎的相应卵裂球进行了性别诊断, 获雄性胚46枚, 雌性胚62枚, 移植后分别获雄性仔鼠4只, 准确率100%(4/4), 雌性仔鼠9只, 准确率70%(9/13)。本研究结果表明小鼠Y染色体重复序列145C5的碱基顺序在C57BL6小鼠和昆明白小鼠中基本一致;为农牧业动物进行性别选择和运用PCR进行单基因病植入前遗传学诊断提供了方法学基础。

  14. Research progression on preimplantation genetic diagnosis and screening%胚胎植入前遗传学诊断和筛查的研究进展

    Institute of Scientific and Technical Information of China (English)

    刘茜桐; 田莉; 师娟子

    2016-01-01

    胚胎植入前遗传学诊断( PGD)和筛查( PGS)是近年来发展的植入前遗传学检测( PGT)方法。 PGD主要适用于父母携带基因突变或染色体平衡易位,通过体外受精,在胚胎移植前检测特定的突变以及非平衡染色体异常是否传递到卵子或胚胎。 PGS是运用相同的检测方法检测胚胎染色体非整倍性,通过移植正常的胚胎从而提高妊娠率。 PGD/PGS相关检测技术发展日新月异,传统FISH技术逐渐被取代,更多的新技术也在研发中。但是,PGD/PGS仍存在费用昂贵,无法检测所有胚胎异常等不足之处。该文综述PGD/PGS相关进展和PGD/PGS所存在的问题。%Preimplantation genetic diagnosis ( PGD) and preimplantation genetic screening ( PGS) are recently developed preimplantation genetic testing ( PGT) .PGD is applied when one or both genetic parents carry a gene mutation or a balanced chromosomal rearrangement and testing is performed to determine whether that specific mutation or an unbalanced chromosomal complement has been transmitted to the oocyte or embryo .PGS uses the same method for detecting embryo chromosomal aneuploidy in order to improve pregnancy rate .With the development of new technology related with PGD /PGS, FISH is gradually being replaced and new methods are under research .However , PGD/PGS is expensive and can not detect all abnormalities of the embryo .This article reviewed the advancement and shortcomings of PGD/PGS.

  15. 50 CFR 221.3 - How are time periods computed?

    Science.gov (United States)

    2010-10-01

    ... 50 Wildlife and Fisheries 7 2010-10-01 2010-10-01 false How are time periods computed? 221.3... Provisions § 221.3 How are time periods computed? (a) General. Time periods are computed as follows: (1) The day of the act or event from which the period begins to run is not included. (2) The last day of the...

  16. Printshop open days

    CERN Multimedia

    Anaïs Schaeffer

    2013-01-01

    With new machines, new services and new opening hours, the CERN Printshop has turned over many new leaves at the start of 2013. Come and find out more from 25 to 27 March at the Printshop open days!   The CERN Printshop’s new 8-metre long black and white printer. The CERN Printshop’s new 8-metre long black-and-white printer is a technical marvel. It can produce 160 pages per minute (it prints on both sides in one pass) and can also staple, punch holes, do thermal binding and make A4 or A5 brochures. The new colour printer is more discreet but no less efficient: it churns out 70 A4 or A3 pages per minute. Once they are printed, colour documents can be inserted into the black and white machine to be hole-punched, made into brochures or bound. They can even be mixed in with black-and-white pages and, as if by magic, come out in the right order! Having recently acquired a state-of-the-art large-format printer, the CERN Printshop can now print posters in A2, A1 or A0 format. ...

  17. Seven remarkable days

    CERN Document Server

    This has been a truly remarkable seven days for CERN. Things have moved so fast that it has sometimes been hard to separate fact from fiction – all the more so since facts have often seemed too good to be true. It’s been a week of many firsts. Monday was the first time we’ve had two captured beams in the LHC. It’s the first time the LHC has functioned as a particle accelerator, boosting particles to the highest beam energy so far achieved at CERN. And it’s been a week in which we’ve seen the highest energy proton-proton collisions ever produced at CERN: our last hadron collider, the SPS was a proton-antiproton collider, a technically simpler machine than the LHC. This week’s successes are all the more remarkable precisely because of the complexity of the LHC. Unlike the SPS collider, it is two accelerators not one, making the job of commissioning nearly twice as difficult. I’d like to express my heartfelt thanks and congra...

  18. Two days of films

    CERN Document Server

    2011-01-01

    The Chinese community at CERN and the CERN CineClub, on the occasion of the Chinese New Year, invite everyone to two days of films Thursday 3 February 2011 at 20:30 - CERN Council Chamber Eat drink man woman Directed by Ang LEE (Taiwan, 1994) 122 min. With Sihung Lung, Yu-Wen Wang, Chien-Lien Wu, Kuei-Mei Yang Senior Master Chef Chu lives in a large house in Taipei with his three unmarried daughters, Jia-Jen, a chemistry teacher converted to Christianity, Jia-Chien, an airline executive, and Jia-Ning, a student who also works in a fast food restaurant. Life in the house revolves around the ritual of an elaborate dinner each Sunday, and the love lives of all the family members. Original version Mandarin with English subtitles Friday 4 February 2011 at 19:30 - CERN Council Chamber Adieu, ma concubine Directed by Chen KAIGE (China / Hong Kong, 1993) 171 min. With Leslie Cheung, Fengyi Zhang, Li Gong "Farewell, My Concubine" is a movie with two parallel, intertwined stories. It is the story of two performers in t...

  19. CERN Diabetes Awareness Days

    CERN Multimedia

    2005-01-01

    Do you have diabetes without knowing it? Following last year's successful campaign, the CERN Infirmary has organised two further diabetes prevention and screening days on 10th & 11th October 2005 from 9am to 4pm (INFIRMARY, Bldg 57, ground floor) open to everyone working on the CERN site who was unable to participate in 2004. Testing of blood pressure, cholesterol and sugar levels, Body Mass Index, etc. Information - documentation - personal and individual advice. Presence of a dietician from 2 p.m. to 4 p.m. In cooperation with the NOVAE, DSR & AVENANCE restaurants Diabetes is reaching epidemic proportions in many countries and, if not diagnosed sufficiently early, can be a major cause of blindness and of heart and kidney disease, etc. Prevention is possible through screening and life-style changes such as improved dietary habits and regular physical exercise. Diabetes is not a serious condition in itself if it is diagnosed and treated early enough but it can have very serious consequences...

  20. CERN diabetes awareness days

    CERN Multimedia

    2005-01-01

    Do you have diabetes without knowing it? Following last year's successful campaign, the CERN Infirmary has organised two further diabetes prevention and screening days on 10th & 11th October 2005 from 9am to 4pm (INFIRMARY, Bldg 57, ground floor) open to everyone working on the CERN site who was unable to participate in 2004. Testing of blood pressure, cholesterol and sugar levels, Body Mass Index, etc. Information - documentation - personal and individual advice. Presence of a dietician from 2 p.m. to 4 p.m. In cooperation with the NOVAE, DSR & AVENANCE restaurants. Diabetes is reaching epidemic proportions in many countries and, if not diagnosed sufficiently early, can be a major cause of blindness, heart and kidney disease, etc. Prevention is possible through screening and life-style changes such as improved dietary habits and regular physical exercise. Diabetes is not a serious condition in itself if diagnosed and treated early enough but it can have very serious consequences if und...

  1. Day one sustainability

    Science.gov (United States)

    Orr, John; Ibell, Timothy; Evernden, Mark; Darby, Antony

    2015-05-01

    Emissions reductions targets for the UK set out in the Climate Change Act for the period to 2050 will only be achieved with significant changes to the built environment, which is currently estimated to account for 50% of the UK's carbon emissions. The socio-technological nature of Civil Engineering means that this field is uniquely placed to lead the UK through such adaptations. This paper discusses the importance of interdisciplinary teaching to produce multi-faceted team approaches to sustainable design solutions. Methods for measuring success in education are often not fit for purpose, producing good students but poor engineers. Real-world failures to apply sustainable design present a serious, difficult to detect, and ultimately economically negative situation. Techniques to replace summative examinations are presented and discussed, with the aim of enhancing core technical skills alongside those required for sustainable design. Finally, the role of our future engineers in policy-making is discussed. In addition to carbon, the provision of water and food will heavily influence the work of civil engineers in the coming decades. Leadership from civil engineers with the technical knowledge and social awareness to tackle these issues will be required. This provides both opportunities and challenges for engineering education in the UK.

  2. Astrophysics days and MHD

    International Nuclear Information System (INIS)

    Falgarone, Edith; Rieutord, Michel; Richard, Denis; Zahn, Jean-Paul; Dauchot, Olivier; Daviaud, Francois; Dubrulle, Berengere; Laval, Jean-Philippe; Noullez, Alain; Bourgoin, Mickael; Odier, Philippe; Pinton, Jean-Francois; Leveque, Emmanuel; Chainais, Pierre; Abry, Patrice; Mordant, Nicolas; Michel, Olivier; Marie, Louis; Chiffaudel, Arnaud; Daviaud, Francois; Petrelis, Francois; Fauve, Stephan; Nore, C.; Brachet, M.-E.; Politano, H.; Pouquet, A.; Leorat, Jacques; Grapin, Roland; Brun, Sacha; Delour, Jean; Arneodo, Alain; Muzy, Jean-Francois; Magnaudet, Jacques; Braza, Marianna; Boree, Jacques; Maurel, S.; Ben, L.; Moreau, J.; Bazile, R.; Charnay, G.; Lewandowski, Roger; Laveder, Dimitri; Bouchet, Freddy; Sommeria, Joel; Le Gal, P.; Eloy, C.; Le Dizes, S.; Schneider, Kai; Farge, Marie; Bottausci, Frederic; Petitjeans, Philippe; Maurel, Agnes; Carlier, Johan; Anselmet, Fabien

    2001-05-01

    This publication gathers extended summaries of presentations proposed during two days on astrophysics and magnetohydrodynamics (MHD). The first session addressed astrophysics and MHD: The cold interstellar medium, a low ionized turbulent plasma; Turbulent convection in stars; Turbulence in differential rotation; Protoplanetary disks and washing machines; gravitational instability and large structures; MHD turbulence in the sodium von Karman flow; Numerical study of the dynamo effect in the Taylor-Green eddy geometry; Solar turbulent convection under the influence of rotation and of the magnetic field. The second session addressed the description of turbulence: Should we give up cascade models to describe the spatial complexity of the velocity field in a developed turbulence?; What do we learn with RDT about the turbulence at the vicinity of a plane surface?; Qualitative explanation of intermittency; Reduced model of Navier-Stokes equations: quickly extinguished energy cascade; Some mathematical properties of turbulent closure models. The third session addressed turbulence and coherent structures: Alfven wave filamentation and formation of coherent structures in dispersive MHD; Statistical mechanics for quasi-geo-strophic turbulence: applications to Jupiter's coherent structures; Elliptic instabilities; Physics and modelling of turbulent detached unsteady flows in aerodynamics and fluid-structure interaction; Intermittency and coherent structures in a washing machine: a wavelet analysis of joint pressure/velocity measurements; CVS filtering of 3D turbulent mixing layer using orthogonal wavelets. The last session addressed experimental methods: Lagrangian velocity measurements; Energy dissipation and instabilities within a locally stretched vortex; Study by laser imagery of the generation and breakage of a compressed eddy flow; Study of coherent structures of turbulent boundary layer at high Reynolds number

  3. Tritium conference days

    International Nuclear Information System (INIS)

    Garnier-Laplace, J.; Lebaron-Jacobs, L.; Sene, M.; Devin, P.; Chretien, V.; Le Guen, B.; Guetat, Ph.; Baglan, N.; Ansoborlo, E.; Boyer, C.; Masson, M.; Bailly-Du-Bois, P.; Jenkinson, St.; Wakeford, R.; Saintigny, Y.; Romeo, P.H.; Thompson, P.; Leterq, D.; Chastagner, F.; Cortes, P.; Philippe, M.; Paquet, F.; Fournier, M.

    2009-01-01

    This document gathers the slides of the available presentations given during this conference day. Twenty presentations out of 21 are assembled in the document and deal with: 1 - tritium in the environment (J. Garnier-Laplace); 2 - status of knowledge about tritium impact on health (L. Lebaron-Jacobs); 3 - tritium, discrete but present everywhere (M. Sene); 4 - management of tritium effluents from Areva NC La Hague site - related impact and monitoring (P. Devin); 5 - tritium effluents and impact in the vicinity of EDF's power plants (V. Chretien and B. Le Guen); 6 - contribution of CEA-Valduc centre monitoring to the knowledge of atmospheric tritiated water transfers to the different compartments of the environment (P. Guetat); 7 - tritium analysis in environment samples: constraints and means (N. Baglan); 8 - organically-linked tritium: the analyst view (E. Ansoborlo); 9 - study of tritium transfers to plants via OBT/HTO air and OBT/HTO free (C. Boyer); 10 - tritium in the British Channel (M. Masson and P. Bailly-Du-Bois); 11 - tritium in British coastal waters (S. Jenkinson); 12 - recent results from epidemiology (R. Wakeford); 13 - effects of tritiated thymidine on hematopoietic stem cells (P.H. Romeo); 14 - tritium management issue in Canada: the point of view from authorities (P. Thompson); 15 - experience feedback of the detritiation process of Valduc centre (D. Leterq); 16 - difficulties linked with tritiated wastes confinement (F. Chastagner); 17 - optimisation of tritium management in the ITER project (P. Cortes); 18 - elements of thought about the management of tritium generated by nuclear facilities (M. Philippe); 19 - CIPR's position about the calculation of doses and risks linked with tritium exposure (F. Paquet); 20 - tritium think tanks (M. Fournier). (J.S.)

  4. AAS 227: Day 3

    Science.gov (United States)

    Kohler, Susanna

    2016-01-01

    Editors Note:This week were at the 227th AAS Meeting in Kissimmee, FL. Along with several fellow authors from astrobites.com, I will bewritingupdates on selectedevents at themeeting and posting at the end of each day. Follow along here or atastrobites.com, or catch ourlive-tweeted updates from the@astrobites Twitter account. The usual posting schedule for AAS Nova will resumenext week.Welcome to Day 3 of the winter American Astronomical Society (AAS) meeting in Kissimmee! Several of us are attending the conference this year, and we will report highlights from each day here on astrobites. If youd like to see more timely updates during the day, we encourage you to follow @astrobites on twitter or search the #aas227 hashtag.Henry Norris Russell Lecture: Viewing the Universe with Infrared Eyes: The Spitzer Space Telescope (by Erika Nesvold)The Henry Norris Russell Award is the highest honor given by the AAS, for a lifetime of eminence in astronomy research. This years award went to Giovanni Fazio of the Harvard-Smithsonian Center for Astrophysics. Fazio became a leader in gamma ray astronomy before switching mid-career to the study of infrared astronomy, and he gave his award lecture on the latter subject, specifically on the Spitzer Space Telescope, one of the most successful infrared telescopes of all time.Artists rendering of the Spitzer space telescope. [NASA/JPL-Caltech]Spitzer has been operating for more than twelve years, and has resulted in over six thousand papers in refereed journals in that time. The telescope sits in an Earth-trailing orbit around the Sun, and is now farther from the Earth (1.4 AU) than the Earth is from the Sun. Fazio gave the audience a fascinating overview of the science done by Spitzer over more than a decade. One of the most productive areas of research for Spitzer is the study of exoplanets, which hadnt even been discovered when the Spitzer Telescope was first conceived. Spitzers high sensitivity and ability to observe exoplanets over

  5. Day-to-day and within-day variation in urinary iodine excretion

    DEFF Research Database (Denmark)

    Rasmussen, Lone Banke; Ovesen, L.; Christiansen, E.

    1999-01-01

    Objective: To examine the day-to-day and within-day variation in urinary iodine excretion and the day-to-day variation in iodine intake. Design: Collection of consecutive 24-h urine samples and casual urine samples over 24 h. Setting: The study population consisted of highly motivated subjects fr...

  6. 植入前遗传学诊断方法的现状和进展%The presant and advances in the methods of preimplantation genetic diagnosis

    Institute of Scientific and Technical Information of China (English)

    田立霞; 纪亚忠; 惠宁

    2006-01-01

    植入前遗传学诊断(preimplantation genetic diagnosis, PGD) 是辅助生育技术与分子生物学技术相结合而形成的一种产前诊断技术,目的是减少携带遗传疾病的胚胎移植.同时减少孕妇反复流产或引产的痛苦.PGD常用的检测方法为:聚合酶链反应(PCR)和荧光原位杂交(FISH).本综述就这两种技术在PGD中应用及存在的问题做一总结.

  7. 胚胎植入前遗传学诊断的现在与未来%The present and future of preimplantation genetic diagnosis

    Institute of Scientific and Technical Information of China (English)

    陈子江; 李媛

    2005-01-01

    植入前遗传学诊断(preimplantation genetic diagnosis,PGD)是一种早期的产前诊断方法。主要是指对体外受精(in vitro fertilization,IVF)胚胎的遗传物质进行分析,诊断胚胎是否有某些遗传异常,选择无遗传学疾患的胚胎植入宫腔,从而获得正常胎儿的诊断方法。这种方法避免了选择性流产和多次流产可能造成的危害以及伦理道德观念的冲突。

  8. 植入前遗传学诊断的伦理思考%Ethical Speculation on Pre-implantation Genetic Diagnosis

    Institute of Scientific and Technical Information of China (English)

    吴青; 冯云

    2009-01-01

    植入前遗传学诊断(Preimplantation Genetic Diagnosis PGD)是以体外受精-胚胎移植技术为基础,结合多学科技术,特别是单细胞DNA分析技术的研究而发展起来的先进技术.在胚胎植入子宫前淘汰遗传异常的胚胎,以达到优生的目的.随着该技术的发展,PGD的应用范围变得更广,相伴而来的是伦理问题,深入思考PGD应用的伦理困境,以期切实地造福人类.

  9. AAS 227: Day 2

    Science.gov (United States)

    Kohler, Susanna

    2016-01-01

    Editors Note:This week were at the 227th AAS Meeting in Kissimmee, FL. Along with several fellow authors from astrobites.com, I will bewritingupdates on selectedevents at themeeting and posting at the end of each day. Follow along here or atastrobites.com, or catch ourlive-tweeted updates from the@astrobites Twitter account. The usual posting schedule for AAS Nova will resumenext week.Welcome to Day 2 of the winter American Astronomical Society (AAS) meeting in Kissimmee! Several of us are attending the conference this year, and we will report highlights from each day here on astrobites. If youd like to see more timely updates during the day, we encourage you to follow @astrobites on twitter or search the #aas227 hashtag.Plenary Session: Black Hole Physics with the Event Horizon Telescope (by Susanna Kohler)If anyone needed motivation to wake up early this morning, they got it in the form of Feryal Ozel (University of Arizona) enthralling us all with exciting pictures, videos, and words about black holes and the Event Horizon Telescope. Ozel spoke to a packed room (at 8:30am!) about where the project currently stands, and where its heading in the future.The EHT has pretty much the coolest goal ever: actually image the event horizons of black holes in our universe. The problem is that the largest black hole we can look at (Sgr A*, in the center of our galaxy) has an event horizon size of 50 as. For this kind of resolution roughly equivalent to trying to image a DVD on the Moon! wed need an Earth-sized telescope. EHT has solved this problem by linking telescopes around the world, creating one giant, mm-wavelength effective telescope with a baseline the size of Earth.Besides producing awesome images, the EHT will be able to test properties of black-hole spacetime, the no-hair theorem, and general relativity (GR) in new regimes.Ozel walked us through some of the theory prep work we need to do now in order to get the most science out of the EHT, including devising new

  10. 2016 SPD: Day 1

    Science.gov (United States)

    Kohler, Susanna

    2016-06-01

    Editors note: This week were in Boulder, Colorado at the 47th meeting of the AAS Solar Physics Division (SPD). Follow along to catch some of the latest news from the field of solar physics!The 2016 SPD meeting was launched this morning from the University of Colorado Boulder campus. Two of the hot topics at this years meeting include celebration of the recent move of the National Solar Observatorys headquarters to Boulder, and discussion of the future Daniel K. Inouye Solar Telescope (DKIST, formerly the Advanced Technology Solar Telescope, ATST). DKIST, planned for a 2019 completion in Hawaii, is the next big telescope on the horizon for solar physics.Todays press conference had an interesting focus: instruments providing new high-energy observations of the Sun. Representatives from four different instruments were here to talk about some of the latest X-ray solar observations.GRIPSThe GRIPS payload flew at 130,000 ft over Antarctica on a giant balloon in January 2016. [NASA/Albert Shih]First up, Albert Shih (NASA Goddard) described the Gamma-Ray Imager/Polarimeter for Solar flares, or GRIPS. GRIPS is a balloon-borne instrument designed to detect X-rays and gamma rays emitted during solar flares. Up to tens of a percent of the energy in solar flares is emitted in the form of accelerated particles, but the physics behind this process is not well understood. GRIPS observes where the highest-energy particles are accelerated, in an effort to learn more about the process.GRIPS was launched on 19 January, 2016 and flew for roughly 12 days gathering ~1 million seconds of data! The logistics of this instruments flight are especially interesting, since it was launched from Antarctica and carried by a balloon at a whopping elevation of 130,000 ft (to get high enough that the atmosphere doesnt absorb all the photons GRIPS is trying to observe). Though the data from the mission has been retrieved, the bulk of the hardware remains where it landed at the end of January. It must

  11. The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review.

    Science.gov (United States)

    Lee, Evelyn; Illingworth, Peter; Wilton, Leeanda; Chambers, Georgina Mary

    2015-02-01

    Is preimplantation genetic diagnosis for aneuploidy (PGD-A) with analysis of all chromosomes during assisted reproductive technology (ART) clinically and cost effective? The majority of published studies comparing a strategy of PGD-A with morphologically assessed embryos have reported a higher implantation rate per embryo using PGD-A, but insufficient data has been presented to evaluate the clinical and cost-effectiveness of PGD-A in the clinical setting. Aneuploidy is a leading cause of implantation failure, miscarriage and congenital abnormalities in humans, and a significant cause of ART failure. Preclinical evidence of PGD-A indicates that the selection and transfer of euploid embryos during ART should improve clinical outcomes. A systematic review of the literature was performed for full text English language articles using MEDLINE, EMBASE, SCOPUS, Cochrane Library databases, NHS Economic Evaluation Database and EconLit. The Downs and Black scoring checklist was used to assess the quality of studies. Clinical effectiveness was measured in terms of pregnancy, live birth and miscarriage rates. Nineteen articles meeting the inclusion criteria, comprising three RCTs in young and good prognosis patients and 16 observation studies were identified. Five of the observational studies included a control group of patients where embryos were selected based on morphological criteria (matched cohort studies). Of the five studies that included a control group and reported implantation rates, four studies (including two RCTs) demonstrated improved implantation rates in the PGD-A group. Of the eight studies that included a control group, six studies (including two RCTs) reported significantly higher pregnancy rates in the PGD-A group, and in the remaining two studies, equivalent pregnancies rates were reported despite fewer embryos being transferred in the PGD-A group. The three RCTs demonstrated benefit in young and good prognosis patients in terms of clinical pregnancy rates

  12. Preimplantation and prenatal diagnosis, wrongful birth and wrongful life: a global view of bioethical and legal controversies.

    Science.gov (United States)

    Frati, Paola; Fineschi, Vittorio; Di Sanzo, Mariantonia; La Russa, Raffaele; Scopetti, Matteo; Severi, Filiberto M; Turillazzi, Emanuela

    2017-05-01

    Prenatal diagnosis based on different technologies is increasingly used in developed countries and has become a common strategy in obstetric practice. The tests are crucial in enabling mothers to make informed decisions about the possibility of terminating pregnancy. They have generated numerous bioethical and legal controversies in the field of 'wrongful life' claims (action brought by or on behalf of a child against the mother or other people, claiming that he or she has to endure a not-worth-living existence) and 'wrongful birth' claims (action brought by the mother or parents against the physician for being burdened with an unwanted, often disabled child, which could have been avoided). The possibility which exists nowadays to intervene actively by programming and deciding the phases linked to procreation and birth has raised several questions worldwide. The mother's right to self-determination could be an end but whether or not this right is absolute is debatable. Freedom could, with time, act as a barrier that obstructs intrusion into other people's lives and their personal choices. Therapeutic choices may be manageable in a liberal sense, and the sanctity of life can be inflected in a secular sense. These sensitive issues and the various points of view to be considered have motivated this review. Literature searches were conducted on relevant demographic, social science and medical science databases (SocINDEX, Econlit, PopLine, Medline, Embase and Current Contents) and via other sources. Searches focused on subjects related to bioethical and legal controversies in the field of preimplantation and prenatal diagnosis, wrongful birth and wrongful life. A review of the international state of law was carried out, focusing attention on the peculiar issue of wrongful life and investigating the different jurisdictional solutions of wrongful life claims in a comparative survey. Courts around the world are generally reluctant to acknowledge wrongful life claims due to

  13. Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer.

    Science.gov (United States)

    Derks-Smeets, I A P; Gietel-Habets, J J G; Tibben, A; Tjan-Heijnen, V C G; Meijer-Hoogeveen, M; Geraedts, J P M; van Golde, R; Gomez-Garcia, E; van den Bogaart, E; van Hooijdonk, M; de Die-Smulders, C E M; van Osch, L A D M

    2014-05-01

    How do couples with a BRCA1/2 mutation decide on preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) for hereditary breast and ovarian cancer syndrome (HBOC)? BRCA couples primarily classify PGD and/or PND as reproductive options based on the perceived severity of HBOC and moral considerations, and consequently weigh the few important advantages of PGD against numerous smaller disadvantages. Awareness of PGD is generally low among persons at high risk for hereditary cancers. Most persons with HBOC are in favour of offering PGD for BRCA1/2 mutations, although only a minority would consider this option for themselves. Studies exploring the motivations for using or refraining from PGD among well-informed BRCA carriers of reproductive age are lacking. We studied the reproductive decision-making process by interviewing a group of well-informed, reproductive aged couples carrying a BRCA1/2 mutation, regarding their decisional motives and considerations. This exploratory, qualitative study investigated the motives and considerations taken into account by couples with a BRCA1/2 mutation and who have received extensive counselling on PGD and PND and have made a well-informed decision regarding this option. Eighteen couples took part in focus group and dyadic interviews between January and September 2012. Semi-structured focus groups were conducted containing two to four couples, assembled based on the reproductive method the couple had chosen: PGD (n = 6 couples) or conception without testing (n = 8 couples). Couples who had chosen PND for BRCA (n = 4) were interviewed dyadically. Two of the women, of whom one had chosen PND and the other had chosen no testing, had a history of breast cancer. None of the couples who opted for PGD or conception without testing found the use of PND, with possible pregnancy termination, acceptable. PND users chose this method because of decisive, mainly practical reasons (natural conception, high chance of favourable outcome

  14. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification.

    Science.gov (United States)

    Zimmerman, Rebekah S; Jalas, Chaim; Tao, Xin; Fedick, Anastasia M; Kim, Julia G; Pepe, Russell J; Northrop, Lesley E; Scott, Richard T; Treff, Nathan R

    2016-02-01

    To develop a novel and robust protocol for multifactorial preimplantation genetic testing of trophectoderm biopsies using quantitative polymerase chain reaction (qPCR). Prospective and blinded. Not applicable. Couples indicated for preimplantation genetic diagnosis (PGD). None. Allele dropout (ADO) and failed amplification rate, genotyping consistency, chromosome screening success rate, and clinical outcomes of qPCR-based screening. The ADO frequency on a single cell from a fibroblast cell line was 1.64% (18/1,096). When two or more cells were tested, the ADO frequency dropped to 0.02% (1/4,426). The rate of amplification failure was 1.38% (55/4,000) overall, with 2.5% (20/800) for single cells and 1.09% (35/3,200) for samples that had two or more cells. Among 152 embryos tested in 17 cases by qPCR-based PGD and CCS, 100% were successfully given a diagnosis, with 0% ADO or amplification failure. Genotyping consistency with reference laboratory results was >99%. Another 304 embryos from 43 cases were included in the clinical application of qPCR-based PGD and CCS, for which 99.7% (303/304) of the embryos were given a definitive diagnosis, with only 0.3% (1/304) having an inconclusive result owing to recombination. In patients receiving a transfer with follow-up, the pregnancy rate was 82% (27/33). This study demonstrates that the use of qPCR for PGD testing delivers consistent and more reliable results than existing methods and that single gene disorder PGD can be run concurrently with CCS without the need for additional embryo biopsy or whole genome amplification. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  15. Simple and Easy to Perform Preimplantation Genetic Diagnosis for β-thalassemia Major Using Combination of Conventional and Fluorescent Polymerase Chain Reaction

    Directory of Open Access Journals (Sweden)

    Rasoul Salehi

    2017-01-01

    Full Text Available Background: Thalassemias are the most common monogenic disorders in many countries throughout the world. The best practice to control the prevalence of the disease is prenatal diagnosis (PND services. Extensive practicing of PND proved effective in reducing new cases but on the other side of this success high abortion rate is hided, which ethically unfair and for many couples, especially with a previous experience of a therapeutic abortion, or moral concerns, is not a suitable choice. Preimplantation genetic diagnosis (PGD is a strong alternative to conventional PND. At present PGD is the only abortion free fetal diagnostic process. Considering the fact that there are more than 6000 single gene disorders affecting approximately 1 in 300 live-births, the medical need for PGD services is significant. Materials and Methods: In the present study development of a PGD protocol for a thalassemia trait couple using nested multiplex fluorescent polymerase chain reaction (PCR for the combination of polymorphic linked short tandem repeat (STR markers and thalassemia mutations is described. Restriction fragment length polymorphism used to discriminate between wild and mutated alleles. Results: In PGD clinical cycle, paternal and maternal alleles for D11S988 and D11S1338 STR markers were segregated as it was expected. PCR product for IVSII-1 mutation was subsequently digested with BtscI restriction enzyme to differentiate normal allele from the mutant allele. The mother's mutation, being a comparatively large deletion, was detectable through size differences on agarose gel. Conclusion: The optimized single cell protocol developed and evaluated in this study is a feasible approach for preimplantation diagnosis of β-thalassemia in our patients.

  16. [Establishment of a novel HLA genotyping method for preimplantation genetic diagnonis using multiple displacement amplification-polymerase chain reaction-sequencing based technique].

    Science.gov (United States)

    Zhang, Yinfeng; Luo, Haining; Zhang, Yunshan

    2015-12-01

    To establish a novel HLA genotyping method for preimplantation genetic diagnonis (PGD) using multiple displacement amplification-polymerase chain reaction-sequencing based technique (MDA-PCR-SBT). Peripheral blood samples and 76 1PN, 2PN, 3PN discarded embryos from 9 couples were collected. The alleles of HLA-A, B, DR loci were detected from the MDA product with the PCR-SBT method. The HLA genotypes of the parental peripheral blood samples were analyzed with the same protocol. The genotypes of specific HLA region were evaluated for distinguishing the segregation of haplotypes among the family members, and primary HLA matching was performed between the embryos. The 76 embryos were subjected to MDA and 74 (97.4%) were successfully amplified. For the 34 embryos from the single blastomere group, the amplification rate was 94.1%, and for the 40 embryos in the two blastomeres group, the rate was 100%. The dropout rates for DQ allele and DR allele were 1.3% and 0, respectively. The positive rate for MDA in the single blastomere group was 100%, with the dropout rates for DQ allele and DR allele being 1.5% and 0, respectively. The positive rate of MDA for the two blastomere group was 100%, with the dropout rates for both DQ and DR alleles being 0. The recombination rate of fetal HLA was 20.2% (30/148). Due to the improper classification and abnormal fertilized embryos, the proportion of matched embryos HLA was 20.3% (15/74),which was lower than the theoretical value of 25%. PGD with HLA matching can facilitate creation of a HLA-identical donor (saviour child) for umbilical cord blood or bone marrow stem cells for its affected sibling with a genetic disease. Therefore, preimplantation HLA matching may provide a tool for couples desiring to conceive a potential donor progeny for transplantation for its sibling with a life-threatening disorder.

  17. Supplementation of fetal bovine serum alters histone modification H3R26me2 during preimplantation development of in vitro produced bovine embryos

    Directory of Open Access Journals (Sweden)

    Daniel R. Arnold

    2015-07-01

    Full Text Available Abstract In vitro production (IVP of bovine embryos is not only of great economic importance to the cattle industry, but is also an important model for studying embryo development. The aim of this study was to evaluate the histone modification, H3R26me2 during pre-implantation development of IVP bovine embryos cultured with or without serum supplementation and how these in vitro treatments compared to in vivo embryos at the morula stage. After in vitro maturation and fertilization, bovine embryos were cultured with either 0 or 2.5% fetal bovine serum (FBS. Development was evaluated and embryos were collected and fixed at different stages during development (2-, 4-, 8-, 16-cell, morula and blastocyst. Fixed embryos were then used for immunofluorescence utilizing an antibody for H3R26me2. Images of stained embryos were analyzed as a percentage of total DNA. Embryos cultured with 2.5% FBS developed to blastocysts at a greater rate than 0%FBS groups (34.85±5.43% vs. 23.38±2.93%; P<0.05. Levels of H3R26me2 changed for both groups over development. In the 0%FBS group, the greatest amount of H3R26me2 staining was at the 4-cell (P<0.05, 16-cell (P<0.05 and morula (P<0.05 stages. In the 2.5%FBS group, only 4-cell stage embryos were significantly higher than all other stages (P<0.01. Morula stage in vivo embryos had similar levels as the 0%FBS group, and both were significantly higher than the 2.5%FBS group. These results suggest that the histone modification H3R26me2 is regulated during development of pre-implantation bovine embryos, and that culture conditions greatly alter this regulation.

  18. Mouse immature oocytes irradiated in vivo at 14-days of age and evaluated for transmitted effects using the aggregation embryo chimera assay

    International Nuclear Information System (INIS)

    Straume, T.; Raabe, O.G.; Walsh, K.J.; Wiley, L.M.

    1996-01-01

    A previous study using the mouse-preimplantation-embryo-chimera assay demonstrated a reproducible transmitted effect (proliferation disadvantage observed in early embryos) from females irradiated as 49-day-old adults using 0.15 Gy of gamma rays and then mated seven weeks later, i.e., embryos were from oocytes that were immature at time of irradiation. Because mouse immature oocytes are known to be much more radiosensitive to cell killing in juveniles than in adults, a follow-on study was performed here using 14-day-old juvenile mice. In contrast to adults, the exposure of juveniles to 0.15 Gy of gamma rays did not result in a detectable transmitted proliferation disadvantage when animals were mated 7 or 12 weeks later. This observation is discussed in light of previous studies on mouse immature oocytes and embryo chimeras

  19. Audit of day case surgery in LAUTECH teaching hospital, Osogbo ...

    African Journals Online (AJOL)

    Background/ method: A retrospective study of all patients operated as day-case at the Ladoke Akintola University Teaching Hospital Osogbo over a period of 14 months (October 2000 to November 2001) was carried out. Results: Seventy-six patients were operated as day-cases within the study period, but 74 case notes ...

  20. Preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Karin Writzl

    2013-02-01

    Conclusions: Over the last two decades, PGD has been shown to be a reliable and safe genetic test for couples who are at risk of a specific inher - ited disorder. For PGS, the results from several ongoing randomized controlled trials performed at different cell biopsy stage, using array-CGH and SNP array will provide the data needed to evaluate the clinical efficacy.