80 research outputs found
Preimplantation Genetic Testing of Aneuploidy by Next Generation Sequencing: Association of Maternal Age and Chromosomal Abnormalities of Blastocyst
- Author
- Publication venue
- 'ID Design 2012/DOOEL Skopje'
- Publication date
- 20/12/2019
- Field of study
BACKGROUND: Aneuploidy is a major cause of miscarriages and implantation failure. Preimplantation genetic testing for aneuploidy (PGT-A) by Next Generation Sequencing (NGS) is able to detect of the numeral and structural chromosomal abnormalities of embryos in vitro fertilization (IVF).
AIM: This study was aimed to assess the relationship between maternal age and chromosomal abnormalities NGS technology.
METHODS: 603 human trophectoderm (TE) biopsied samples were tested by Veriseq kit of Illumina. The relation of marternal age and chromosomal abnormality of blastocyst embryo was evaluated.
RESULTS: Among the 603 TE samples, 247 samples (42.73%) presented as chromosomal abnormalities. The abnormalities occurred to almost chromosomes, and the most popular aneuploidy observed is 22. Aneuploidy rate from 0.87% in chromosome 11 to 6.06% in chromosome 22. The rate of abnormal chromosome increased dramatically in group of mother's ages over 37 (54.17%) comparing to group of mother's ages less than 37 (38.05%) (p < 0.000). The Abnormal chromosome and maternal age has a positive correlation with r = 0.4783 (p<0.0001).
CONCLUSION: These results showed high rate abnormal chromosome and correlated with advanced maternal age of blastocyst embryos
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds.
- Author
- ABBEY C. A.
- AERTS J.
- AGABA M.
- AJMONE-MARSAN P.
- ARAUJO F. R.
- BARENDSE W.
- BOETTCHER P. J.
- BRADLEY D. G.
- BRYC K.
- BUNCH R. J.
- BURTON J.
- BUSTAMANTE C. D.
- CAETANO A. R.
- CHOI J.
- DIALLO B.
- DODDS K. G.
- EVERSOLE K. A.
- FU Q.
- GAO C.
- GAO H.
- GARCIA J. F.
- GIBBS R. A.
- GILL C. A.
- GODDARD M. E.
- GORNI C.
- GREEN R. D.
- GREFENSTETTE J. J.
- HAILEMARIAM L.
- HAMERNIK D. L.
- HANOTTE O.
- HARRISON B. E.
- HAYES B. J.
- HERNANDEZ R. D.
- JANN O.
- JIANG H.
- KAPPES S. M.
- KENT M. P.
- LAU L. P. L.
- LIEN S.
- LIU G. E.
- LIU Y.
- LUFF B.
- LYNN D. J.
- MACHADO M. A.
- MARIANI P.
- MARTINEZ M. L.
- MATUKUMALLI A.
- MATUKUMALLI L. K.
- MCEWAN J. C.
- MCWILLIAM S.
- MOORE S. S.
- MORRIS C. A.
- MULATU W.
- MURDOCH B.
- MUZNY D. M.
- MWAKAYA J.
- NAZARETH L. V.
- NEGRINI R.
- OLIVIER H.
- PANZITTA F.
- PATIL S.
- PLASTOW G.
- QIN X.
- REN Y.
- SAN LUCAS A.
- SCHNABEL R. D.
- SCLEP G.
- SILVA L. O. C. da
- SILVA M. V. G. B.
- SIM W.
- SKOW L. C.
- SMITH T.
- SONG X.-Z.
- SONSTEGARD T. S.
- SPELMAN R. J.
- STELLA A.
- TAYLOR J. F.
- THOMAZ M. B.
- VALENTINI A.
- VAN TASSELL C. P.
- VEGA R.
- VILLA-ANGULO R.
- WEINSTOCK G. M.
- WHEELER D. A.
- WILLIAMS J. L.
- WILLIAMS P.
- WOMACK J.
- WOOLLIAMS J. A.
- WORLEY K. C.
- WRIGHT M.
- ZHAO K.
- Publication venue
- Publication date
- 01/01/2009
- Field of study
The imprints of domestication and breed development on the genomes of livestock likely differ from those of companion animals. A deep draft sequence assembly of shotgun reads from a single Hereford female and comparative sequences sampled from six additional breeds were used to develop probes to interrogate 37,470 single-nucleotide polymorphisms (SNPs) in 497 cattle from 19 geographically and biologically diverse breeds. These data show that cattle have undergone a rapid recent decrease in effective population size from a very large ancestral population, possibly due to bottlenecks associated with domestication, selection, and breed formation. Domestication and artificial selection appear to have left detectable signatures of selection within the cattle genome, yet the current levels of diversity within breeds are at least as great as exists within humans
Multi-messenger observations of a binary neutron star merger
- Author
- Aab A
- Aartsen MG
- Abbott BP
- Abbott R
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- Abdalla H
- Abe F
- Abeysekara AU
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- Abreu P
- Acernese F
- Acero F
- Ackermann M
- Ackley K
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- Publication venue
- 'American Astronomical Society'
- Publication date
- 01/01/2017
- Field of study
On 2017 August 17 a binary neutron star coalescence candidate (later designated GW170817) with merger time 12:41:04 UTC was observed through gravitational waves by the Advanced LIGO and Advanced Virgo detectors. The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray burst (GRB 170817A) with a time delay of ~1.7 s with respect to the merger time. From the gravitational-wave signal, the source was initially localized to a sky region of 31 deg2 at a luminosity distance of 40+8-8 Mpc and with component masses consistent with neutron stars. The component masses were later measured to be in the range 0.86 to 2.26 Mo. An extensive observing campaign was launched across the electromagnetic spectrum leading to the discovery of a bright optical transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC 4993 (at ~40 Mpc) less than 11 hours after the merger by the One- Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The optical transient was independently detected by multiple teams within an hour. Subsequent observations targeted the object and its environment. Early ultraviolet observations revealed a blue transient that faded within 48 hours. Optical and infrared observations showed a redward evolution over ~10 days. Following early non-detections, X-ray and radio emission were discovered at the transient’s position ~9 and ~16 days, respectively, after the merger. Both the X-ray and radio emission likely arise from a physical process that is distinct from the one that generates the UV/optical/near-infrared emission. No ultra-high-energy gamma-rays and no neutrino candidates consistent with the source were found in follow-up searches. These observations support the hypothesis that GW170817 was produced by the merger of two neutron stars in NGC4993 followed by a short gamma-ray burst (GRB 170817A) and a kilonova/macronova powered by the radioactive decay of r-process nuclei synthesized in the ejecta
Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults
- Author
- Abbas Rezaianzadeh
- Abdonas Tamosiunas
- Abdul Basit
- Abdul Hamid Zargar
- Abdullah Alkandari
- Abdullatif Husseini
- Abhijit Sen
- Abla M Sibai
- Abu Am Hanif
- Adela Chirita-Emandi
- Adelheid Weber
- Adetoyeje Y Oyeyemi
- Adewale L Oyeyemi
- Adolfo Rubinstein
- Adoubi Kassi Anicet
- Adroaldo Cesar Araujo Gaya
- Afshin Ostovar
- Agnes L Kadvan
- Agneta Sjöberg
- Agneta Yngve
- Agnès Le Port
- Agustinus Soemantri
- Agustín Perez-Londoño
- Ahmad A Zainuddin
- Ahmad Faudzi Yusoff
- Ahmad Reza Dorosty
- Ahmed A Madar
- Aida Pilav
- Aïcha Soumaré
- Akaninyene Otu
- Akihiro Yoshihara
- Akkumis Salhanova
- Akram Pourshams
- Ala'a Alkerwi
- Alain Morejon
- Alanna G da Silva
- Albertino Damasceno
- Alberto Barceló
- Alberto Palloni
- Albina A Fakhretdinova
- Alejandro Diaz
- Aleksander Giwercman
- Aleksandra Gomula
- Aleksandra Piwonska
- Alessandro Gialluisi
- Aletta E Schutte
- Alexander D Deev
- Alexandra M Cucu
- Alexandre C Pereira
- Alfonso Siani
- Alfonso Sousa-Poza
- Ali Ahmadi
- Ali Akbar Shayesteh
- Ali Esmaeili
- Ali Ghanbari
- Ali Reza Safarpour
- Alice Bonilla-Vargas
- Alicia Matijasevich
- Alina G Platonova
- Alina Kerimkulova
- Aline Meirhaeghe
- Aline P Batista
- Alireza Ansari-Moghaddam
- Alireza Khosravi
- Alireza Moslem
- Alireza Sadjadi
- Alisha N Wade
- Alison J Hayes
- Alison J Price
- Allan G Hill
- Allan Linneberg
- Almaz Sharman
- Altan Onat
- Aluisio Jd Barros
- Alun Evans
- Amalia De Curtis
- Amanda G Thrift
- Amanda J Cross
- Amaneh Shayanrad
- Ambady Ramachandran
- Amelia C Crampin
- Amina Barkat
- Amir Houshang Mehrparvar
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- Ana Azevedo
- Ana B Crujeiras
- Ana Barradas-Pires
- Ana Carolina Mgn de Sá
- Ana D González-Alvarez
- Ana Henriques
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- Ana Jelaković
- Ana Maria B Menezes
- Ana P Ortiz
- Ana Paula C Cândido
- Anabela Mota-Pinto
- Anar Dushpanova
- Anastasia Markaki
- Anders Grøntved
- Andre L Guimaraes
- Andre P Kengne
- Andrea Gazzinelli
- Andrea Gualtieri
- Andrea Rodriguez-Martinez
- Andrea Rvr Horimoto
- Andrea Schneider
- Andrea Y Rodríguez
- Andrea Zentai
- Andreas Stang
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- Andrzej Pająk
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- Yanhui Dong
- Yanina Zocalo
- Yanitsa V Zhecheva
- Yannis Manios
- Yanping Li
- Yemane Berhane
- Yeunsook Rho
- Yeva Movsesyan
- Yi Song
- Yi Zeng
- Yih Chung Tham
- Yiling J Cheng
- Yin Guo
- Ying-Wei Wang
- Yingfeng Zheng
- Yn-Tz Sung
- Yong Tao
- Yonghua Hu
- Yosef Farzi
- Yoto Yotov
- Youcef Laid
- Young-Ho Khang
- Yousef Saleh Khader
- Yu-Ling Yu
- Yuan He
- Yufang Bi
- Yuki Fujita
- Yulia Balanova
- Yuliya V Solovieva
- Yuna He
- Yunjiang Yu
- Yury P Nikitin
- Yves Kameli
- Yves Martin-Prevel
- Yvonne T van der Schouw
- Zahra Mohammadi
- Zbigniew Gaciong
- Zbigniew Kulaga
- Zengchang Pang
- Zhamilya Battakova
- Zhamyila Usupova
- Zhanna Kalmatayeva
- Zhen-Yu Zhang
- Zhengming Chen
- Ziad A Abdeen
- Zivka Dika
- Zlatko Fras
- Zulfiqar A Bhutta
- Zulfiya Abdurrahmonova
- Zumin Shi
- Łukasz Kryst
- Publication venue
- Publication date
- 01/03/2024
- Field of study
Background Underweight and obesity are associated with adverse health outcomes throughout the life course. We
estimated the individual and combined prevalence of underweight or thinness and obesity, and their changes, from
1990 to 2022 for adults and school-aged children and adolescents in 200 countries and territories.
Methods We used data from 3663 population-based studies with 222 million participants that measured height and
weight in representative samples of the general population. We used a Bayesian hierarchical model to estimate
trends in the prevalence of different BMI categories, separately for adults (age ≥20 years) and school-aged children
and adolescents (age 5–19 years), from 1990 to 2022 for 200 countries and territories. For adults, we report the
individual and combined prevalence of underweight (BMI <18·5 kg/m2) and obesity (BMI ≥30 kg/m2). For schoolaged children and adolescents, we report thinness (BMI <2 SD below the median of the WHO growth reference)
and obesity (BMI >2 SD above the median).
Findings From 1990 to 2022, the combined prevalence of underweight and obesity in adults decreased in
11 countries (6%) for women and 17 (9%) for men with a posterior probability of at least 0·80 that the observed
changes were true decreases. The combined prevalence increased in 162 countries (81%) for women and
140 countries (70%) for men with a posterior probability of at least 0·80. In 2022, the combined prevalence of
underweight and obesity was highest in island nations in the Caribbean and Polynesia and Micronesia, and
countries in the Middle East and north Africa. Obesity prevalence was higher than underweight with posterior
probability of at least 0·80 in 177 countries (89%) for women and 145 (73%) for men in 2022, whereas the converse
was true in 16 countries (8%) for women, and 39 (20%) for men. From 1990 to 2022, the combined prevalence of
thinness and obesity decreased among girls in five countries (3%) and among boys in 15 countries (8%) with a
posterior probability of at least 0·80, and increased among girls in 140 countries (70%) and boys in 137 countries (69%)
with a posterior probability of at least 0·80. The countries with highest combined prevalence of thinness and
obesity in school-aged children and adolescents in 2022 were in Polynesia and Micronesia and the Caribbean for
both sexes, and Chile and Qatar for boys. Combined prevalence was also high in some countries in south Asia, such
as India and Pakistan, where thinness remained prevalent despite having declined. In 2022, obesity in school-aged
children and adolescents was more prevalent than thinness with a posterior probability of at least 0·80 among girls
in 133 countries (67%) and boys in 125 countries (63%), whereas the converse was true in 35 countries (18%) and
42 countries (21%), respectively. In almost all countries for both adults and school-aged children and adolescents,
the increases in double burden were driven by increases in obesity, and decreases in double burden by declining
underweight or thinness.
Interpretation The combined burden of underweight and obesity has increased in most countries, driven by an
increase in obesity, while underweight and thinness remain prevalent in south Asia and parts of Africa. A healthy
nutrition transition that enhances access to nutritious foods is needed to address the remaining burden of
underweight while curbing and reversing the increase in obesit
Prevalent breast cancer patients with a homozygous mutant status for CYP2D6*4: response and biomarkers in tamoxifen users
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- A Gaedigk
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- C. Weltens
- CK Osborne
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- D. Lambrechts
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- F. Amant
- H. Wildiers
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- J Cuzick
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- JE Mortimer
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- MP Goetz
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- S. Van Huffel
- SA Nowell
- SC Sim
- T. Vandorpe
- V Stearns
- W Schroth
- W. Van den Bogaert
- Y Jin
- Z Desta
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds
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- Aerts Jan
- Agaba Morris
- Ajmone-Marsan Paolo
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- 'American Association for the Advancement of Science (AAAS)'
- Publication date
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status: publishe
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- Publication venue
- 'American Astronomical Society'
- Publication date
- 28/10/2022
- Field of study
On 2017 August 17 a binary neutron star coalescence candidate (later
designated GW170817) with merger time 12:41:04 UTC was observed through
gravitational waves by the Advanced LIGO and Advanced Virgo detectors.
The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray
burst (GRB 170817A) with a time delay of ∼ 1.7 {{s}} with respect to
the merger time. From the gravitational-wave signal, the source was
initially localized to a sky region of 31 deg2 at a
luminosity distance of {40}-8+8 Mpc and with
component masses consistent with neutron stars. The component masses
were later measured to be in the range 0.86 to 2.26 {M}ȯ
. An extensive observing campaign was launched across the
electromagnetic spectrum leading to the discovery of a bright optical
transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC
4993 (at ∼ 40 {{Mpc}}) less than 11 hours after the merger by the
One-Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The
optical transient was independently detected by multiple teams within an
hour. Subsequent observations targeted the object and its environment.
Early ultraviolet observations revealed a blue transient that faded
within 48 hours. Optical and infrared observations showed a redward
evolution over ∼10 days. Following early non-detections, X-ray and
radio emission were discovered at the transient’s position ∼ 9
and ∼ 16 days, respectively, after the merger. Both the X-ray and
radio emission likely arise from a physical process that is distinct
from the one that generates the UV/optical/near-infrared emission. No
ultra-high-energy gamma-rays and no neutrino candidates consistent with
the source were found in follow-up searches. These observations support
the hypothesis that GW170817 was produced by the merger of two neutron
stars in NGC 4993 followed by a short gamma-ray burst (GRB 170817A) and
a kilonova/macronova powered by the radioactive decay of r-process
nuclei synthesized in the ejecta.</p
Transitions between ecological regimes in salinising wetlands
- Author
- Publication venue
- Publication date
- 01/01/2005
- Field of study
Secondary salinisation has affected large areas of inland southwestern Australia, and in particular, low lying aquatic areas; causing the loss of freshwater submerged macrophyte communities and their replacement by salt-tolerant species. At high salinities, the salt-tolerant macrophyte-dominated ecological regime may be replaced by a regime dominated by benthic microbial communities, further reducing the structural and functional diversity of salinised wetland ecosystems. There is little prospect of restoring salinised systems to a freshwater state, meaning that saline macrophyte dominated wetlands have a heightened structural and functional importance in this landscape. Prior to this study, little was known about the drivers for change from one ecological regime to another in salinising wetlands or about rates of ecosystem response to these drivers.
This study used experimental and observational data from seven saline wetlands in order to identify some of the potential mechanisms for the transition between the salt tolerant submerged macrophyte-dominated regime and the benthic microbial community-dominated regime. The applicability of existing conceptual models for ecological regime shifts was then tested against these data. Some of the mechanisms responsible for the formation and maintenance of the macrophyte-dominated regime were explored by examining the effects of salinity on germination and flowering in a series of salt-tolerant submerged macrophytes. The initiation and dominance of benthic microbial communities over a range of salinity and wetting regimes was also examined.
The results suggested that macrophyte communities are unlikely to develop in seasonally-drying wetlands at high salinities (>45 ppt), but will usually germinate and establish well at lower salinities. It was also predicted that although benthic microbial communities can survive and grow across a wide range of salinities, they are likely to be outcompeted at low salinities by macrophytes or by phytoplankton blooms if water column nutrient levels are high. However, water permanence may facilitate benthic microbial community dominance.
Existing conceptual models of ecological regime transitions, such as the alternative regimes model, did not account for the effect of water regime on the dynamics of seasonally-drying systems. Therefore, a new conceptual model incorporating the interaction between hydrology and salinity in seasonally-drying wetlands was proposed
Development of conceptual models for ecological regime change in temporary Australian wetlands
- Publication venue
- 'Island Press'
- Publication date
- 01/01/2009
- Field of study
The impact of consumer product knowledge on prices of credence goods : an analysis in the context of the antiques market
- Publication venue
- Publication date
- 01/01/1999
- Field of study
Research Paper Series (National University of Singapore. Faculty of Business Administration); 1999-0031-1
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