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https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#1
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28712411/calcium-sensing-receptor-casr-is-involved-in-porcine-in-vitro-fertilisation-and-early-embryo-development
#2
C Liu, Y Liu, K Larsen, Y P Hou, H Callesen
It has been demonstrated that extracellular calcium is necessary in fertilisation and embryo development but the mechanism is still not well understood. The present study mainly focussed on the extracellular calcium effector called the calcium-sensing receptor (CASR) and examined its expression in porcine gametes and embryos and its function during fertilisation and early embryo development. By using reverse transcription polymerase chain reaction, CASR was found to be expressed in porcine oocytes, spermatozoa and embryos at different developmental stages...
July 17, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28704691/inhibition-in-fertilisation-of-coral-gametes-following-exposure-to-nickel-and-copper
#3
Francesca Gissi, Jenny Stauber, Amanda Reichelt-Brushett, Peter L Harrison, Dianne F Jolley
The mining and production of nickel in tropical regions have the potential to impact on ecologically valuable tropical marine ecosystems. Currently, few data exist to assess the risks of nickel exposure to tropical ecosystems and to derive ecologically relevant water quality guidelines. In particular, data are lacking for keystone species such as scleractinian corals, which create the complex structural reef habitats that support many other marine species. As part of a larger study developing risk assessment tools for nickel in the tropical Asia-Pacific region, we investigated the toxicity of nickel on fertilisation success in three species of scleractinian corals: Acropora aspera, Acropora digitifera and Platygyra daedalea...
July 10, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28703337/paternal-age-as-an-independent-factor-does-not-affect-embryo-quality-and-pregnancy-outcomes-of-testicular-sperm-extraction-intracytoplasmic-sperm-injection-in-azoospermia
#4
Y S Park, S H Lee, C K Lim, H W Choi, J H An, C W Park, H S Lee, J S Lee, J T Seo
This study was performed to evaluate the independent influence of paternal age affecting embryo development and pregnancy using testicular sperm extraction (TESE)-intracytoplasmic sperm injection (ICSI) in obstructive azoospermia (OA) and nonobstructive azoospermia (NOA). Paternal patients were divided into the following groups: ≤30 years, 31-35 years, 36-40 years, 41-45 years and ≥46 years. There were no differences in the rates of fertilisation or embryo quality according to paternal and maternal age...
July 13, 2017: Andrologia
https://www.readbyqxmd.com/read/28686890/assessing-the-use-of-%C3%AE-18-o-in-phosphate-as-a-tracer-for-catchment-phosphorus-sources
#5
Karin Tonderski, Lotta Andersson, Göran Lindström, Rasmus St Cyr, Ronny Schönberg, Heinrich Taubald
Procedures for source apportionment of nutrients transported in rivers and streams are often uncertain and difficult to validate. In this study, we investigated if the oxygen isotope ratios in stream dissolved phosphate (δ(18)OP) can be used to distinguish between the phosphorus (P) originating from agricultural runoff and from rural sewage, at different periods of the year. Water was collected from septic tanks, drainage wells and the stream outlet in a small (7.3 km(2)) agricultural catchment to capture variations in the isotope signature at different flow events...
July 4, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28684548/lem-domain-proteins-are-lost-during-human-spermiogenesis-but-baf-and-baf-l-persist
#6
Razan A Elkhatib, Marine Paci, Romain Boissier, Guy Longepied, Yasmina Auguste, Vincent Achard, Patrice Bourgeois, Nicolas Levy, Nicolas Branger, Michael J Mitchell, Catherine Metzler-Guillemain
During spermiogenesis the spermatid nucleus is elongated, and dramatically reduced in size with protamines replacing histones to produce a highly compacted chromatin. After fertilisation, this process is reversed in the oocyte to form the male pronucleus. Emerging evidence, including the coordinated loss of the nuclear lamina (NL) and the histones, supports the involvement of the NL in spermatid nuclear remodelling, but how the NL links to the chromatin is not known. In somatic cells, interactions between the NL and the chromatin have been demonstrated: LEM-domain proteins and LBR interact with the NL and, respectively, the chromatin proteins BAF and HP1...
July 6, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28683695/a-gift-or-a-waste-quintavalle-surplus-embryos-and-the-abortion-act-1967
#7
Lisa Cherkassky
The destruction of an embryo must be justified in law. This is to prevent frivolous wastage and to show the respect afforded by the Warnock Report (1984). For example, embryonic destruction during pregnancy is underpinned by the Abortion Act 1967, and embryonic destruction during fertility treatment is regulated by the Human Fertilisation and Embryology Act 1990. However, following the appeal decision in R (Quintavalle) v Human Fertilisation and Embryology Authority (and Secretary of State for Health) [2005] 2 A...
July 6, 2017: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28683668/kinship-identities-in-the-context-of-uk-maternal-spindle-transfer-and-pronuclear-transfer-legislation
#8
Calum MacKellar
In the discussions leading up to the enactment of the UK Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015, it was repeatedly emphasised, by many commentators, that maternal spindle transfer (MST) and pronuclear transfer (PNT) did not give rise to children who could be considered as having three or more parents. This was because it was argued that only the genetic material found in the chromosomes should be considered as the determining factor for the formation of parent-child relationships and the resulting kinship identities...
July 6, 2017: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28679464/linoleic-la-and-linolenic-ala-acid-concentrations-in-follicular-fluid-of-prepubertal-goats-and-their-effect-on-oocyte-in-vitro-maturation-and-embryo-development
#9
Montserrat Roura, María G Catalá, Sandra Soto-Heras, Sondes Hammami, Dolors Izquierdo, Ali Fouladi-Nashta, Maria-Teresa Paramio
In this study we assessed the concentration of linoleic acid (LA) and linolenic acid (ALA) in follicular fluid of prepubertal goats according to follicle size (<3mm or ≥3mm) by gas chromatography and tested the addition of different LA and ALA (LA:ALA) concentration ratios (50:50, 100:50 and 200:50µM) to the IVM medium on embryo development, mitochondrial activity, ATP concentration and relative gene expression (RPL19, ribosomal protein L19; SLC2A1, facilitated glucose transporter 1; ATF4, activating transcription factor 4; GPX1, glutathione peroxidase 1; HSPA5, heat-shock protein family A 70 kDa; GAPDH, glyceraldehyde-3-phosphate dehydrogenase; DNMT1, DNA methyltransferase 1; GCLC, glutamate-cysteine ligase catalytic subunit; SOD1, superoxide dismutase 1)...
July 6, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28675921/cycle-regimens-for-frozen-thawed-embryo-transfer
#10
REVIEW
Tarek Ghobara, Tarek A Gelbaya, Reuben Olugbenga Ayeleke
BACKGROUND: Among subfertile couples undergoing assisted reproductive technology (ART), pregnancy rates following frozen-thawed embryo transfer (FET) treatment cycles have historically been found to be lower than following embryo transfer undertaken two to five days following oocyte retrieval. Nevertheless, FET increases the cumulative pregnancy rate, reduces cost, is relatively simple to undertake and can be accomplished in a shorter time period than repeated in vitro fertilisation (IVF) or intracytoplasmic sperm injection (ICSI) cycles with fresh embryo transfer...
July 5, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28672234/zinc-fertilisation-increases-grain-zinc-and-reduces-grain-lead-and-cadmium-concentrations-more-in-zinc-biofortified-than-standard-wheat-cultivar
#11
Muhammad Qaswar, Shahid Hussain, Zed Rengel
Given that plant uptake and transport systems for metals have some similarities, zinc (Zn)-biofortified cultivars may concurrently accumulate non-essential toxic heavy metals in grains. However, Zn-biofortified cultivars have never been tested for heavy metal accumulation in grains. In a pot experiment, we compared Zn-biofortified wheat (Zincol-2016) with a standard wheat (Faisalabad-2008) cultivar on heavy-metal-contaminated soils for yield response and grain accumulation of Zn, lead (Pb) and cadmium (Cd), without or with Zn fertilisation (8mgZnkg(-1))...
June 30, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28670753/human-varicella-zoster-virus-is-not-present-in-the-semen-of-a-man-affected-by-chickenpox-during-the-in-vitro-fertilisation-of-his-wife
#12
D Y L Chan, K K W Lam, E Y L Lau, W S B Yeung, E H Y Ng
Human varicella zoster virus (VZV) is a member of the herpes virus family and affects humans only. Information about the presence of the virus in the semen samples of men affected by chickenpox is rather limited in the literature. Here, we reported a husband was affected by VZV during in vitro fertilisation treatment of his wife treated in our centre. The semen sample was checked for the presence of VZV by the PCR technique. The PCR result found no detectable viral DNA in the semen sample. The semen sample was then used for conventional IVF insemination and subsequently a healthy baby boy was born...
July 3, 2017: Andrologia
https://www.readbyqxmd.com/read/28670385/zebrafish-methanol-exposure-causes-patterning-defects-and-suppressive-cell-proliferation-in-retina
#13
Jinling Fu, Jingxue Jiao, Kechao Weng, Dan Yu, Ruijun Li
PURPOSE: Methanol exposure have been shown to produce retinal abnormalities and visual dysfunctions in rodents and other mammals developing in utero. In this study, we characterized how methanol affects the retinal development in an ex utero embryonic system, the zebrafish. METHODS: Zebrafish embryos were raised for 24 hours in fish water supplemented with various concentrations of methanol at 6 hours after fertilisation. The effects of methanol on retinal morphology were assessed by histologic and immunohistochemical analyses...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28669060/anti-mullerian-hormone-amh-and-embryo-quality-assessed-by-time-lapse-imaging-tli-a-cross-sectional-observational-study
#14
P Bhide, M Escriba, A Srikantharajah, H Joshi, A Gudi, A Shah, G Acharya, R Homburg
PURPOSE: Serum anti-Mullerian hormone shows a strong positive correlation to the quantitative ovarian reserve but its correlation to embryo quality is unclear. This study assessed the association between serum AMH as a marker of ovarian reserve and embryo quality, using the technology of time-lapse imaging of the embryos in women undergoing in vitro fertilisation (IVF) treatment. METHODS: 304 embryos from 198 women undergoing IVF were included in the study. Serum AMH was assessed for all women...
July 1, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28668086/the-mis-appropriation-of-hiv-aids-advocacy-strategies-in-global-mental-health-towards-a-more-nuanced-approach
#15
Alison Howell, China Mills, Simon Rushton
BACKGROUND: Mental health is increasingly finding a place on global health and international development agendas. Advocates for Global Mental Health (GMH), and international organizations such as the World Health Organization (WHO) and the World Bank, argue that treatments available in high-income countries should also be made available in low- and middle-income countries. Such arguments are often made by comparing mental health to infectious diseases, including the relative disease and economic burdens they impose, and pointing to the applicability of the right to access treatment for mental health, not only infectious diseases...
July 1, 2017: Globalization and Health
https://www.readbyqxmd.com/read/28663590/carbon-footprint-of-grain-production-in-china
#16
Dan Zhang, Jianbo Shen, Fusuo Zhang, Yu'e Li, Weifeng Zhang
Due to the increasing environmental impact of food production, carbon footprint as an indicator can guide farmland management. This study established a method and estimated the carbon footprint of grain production in China based on life cycle analysis (LCA). The results showed that grain production has a high carbon footprint in 2013, i.e., 4052 kg ce/ha or 0.48 kg ce/kg for maize, 5455 kg ce/ha or 0.75 kg ce/kg for wheat and 11881 kg ce/ha or 1.60 kg ce/kg for rice. These footprints are higher than that of other countries, such as the United States, Canada and India...
June 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28662953/corrigendum-to-fertilisers-production-from-ashes-after-sewage-sludge-combustion-strategy-towards-sustainable-development-environ-res-154-2017-171-180
#17
Katarzyna Gorazda, Barbara Tarko, Zbigniew Wzorek, Halyna Kominko, Anna K Nowak, Joanna Kulczycka, Anna Henclik, Marzena Smol
No abstract text is available yet for this article.
June 26, 2017: Environmental Research
https://www.readbyqxmd.com/read/28660655/association-between-total-globozoospermia-and-sperm-chromatin-defects
#18
N Eskandari, M Tavalaee, D Zohrabi, M H Nasr-Esfahani
Globozoospermia is a severe sperm morphological anomaly leading to primary infertility and low fertilisation following intracytoplasmic sperm injection (ICSI). This phenotype is observed in less than 0.1% of infertile men and is determined by small, round-headed spermatozoa with absence of an acrosomal cap, acrosome protease and also cytoskeletal proteins. Failure of oocyte activation is considered as the main cause of fertilisation failure in these individuals post-ICSI. Therefore, artificial oocyte activation (AOA) along with ICSI is commonly implemented...
June 29, 2017: Andrologia
https://www.readbyqxmd.com/read/28657383/retrospective-evaluation-of-pregnancy-outcomes-and-clinical-implications-of-34-han-chinese-women-with-unicornuate-uterus-who-received-ivf-et-or-icsi-et-treatment
#19
Junfen Liu, Yuanxia Wu, Suming Xu, Dan Su, Yingli Han, Xueqing Wu
This retrospective study aimed to evaluate pregnancy outcome and newborn health condition for a specific group of infertile patients with unicornuate uterus. A total of 34 patients were confirmed to have unicornuate uterus. These patients received 47 cycles of in vitro fertilisation-embryo transfer (IVF-ET) or intracytoplasmic sperm injection-embryo transfer (ICSI-ET), achieved 21 clinical pregnancies with a clinical pregnancy rate of 60.61%. Full-term delivery rate was 76.47%. Eleven patients gave birth to single neonates, while six patients gave birth to twins...
June 28, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28651360/novel-reproductive-technologies-to-prevent-mitochondrial-disease
#20
Lyndsey Craven, Mao-Xing Tang, Gráinne S Gorman, Petra De Sutter, Björn Heindryckx
BACKGROUND: The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring...
June 23, 2017: Human Reproduction Update
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