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Aneuploidy

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https://www.readbyqxmd.com/read/28334731/characterisation-of-cct271850-a-selective-oral-and-potent-mps1-inhibitor-used-to-directly-measure-in-vivo-mps1-inhibition-vs-therapeutic-efficacy
#1
Amir Faisal, Grace W Y Mak, Mark D Gurden, Cristina P R Xavier, Simon J Anderhub, Paolo Innocenti, Isaac M Westwood, Sébastien Naud, Angela Hayes, Gary Box, Melanie R Valenti, Alexis K De Haven Brandon, Lisa O'Fee, Jessica Schmitt, Hannah L Woodward, Rosemary Burke, Rob L M vanMontfort, Julian Blagg, Florence I Raynaud, Suzanne A Eccles, Swen Hoelder, Spiros Linardopoulos
BACKGROUND: The main role of the cell cycle is to enable error-free DNA replication, chromosome segregation and cytokinesis. One of the best characterised checkpoint pathways is the spindle assembly checkpoint, which prevents anaphase onset until the appropriate attachment and tension across kinetochores is achieved. MPS1 kinase activity is essential for the activation of the spindle assembly checkpoint and has been shown to be deregulated in human tumours with chromosomal instability and aneuploidy...
March 23, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#2
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller, Jessica Rafalko, Lisa Cordeiro, Shanlee Davis, David Hessl, Judith Ross
OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28331810/juvenile-granulosa-cell-tumor-of-the-testicle-report-of-a-neonatal-case-with-positive-alpha-fetoprotein-immunohistochemical-staining
#3
Melissa Dundas, Mark Horowitz, Richard Sidlow
We report on a case of juvenile granulosa cell tumor of the testicle in a neonate, a rare testicular tumor in children. No genital ambiguity, anatomic abnormalities, nor sex chromosome aneuploidy was noted in this patient. In our case, despite positive staining for alpha-fetoprotein which is most consistent with yolk sac tumors, all clinical, gross anatomic, histologic, and other immunohistologic characteristics of the tumor remained consistent with the diagnosis of juvenile granulosa cell tumor. The alpha-fetoprotein positivity of the tumor remains unexplained...
May 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28331361/maternal-anxiety-and-its-correlation-with-pain-experience-during-chorion-villus-sampling-and-amniocentesis
#4
Katharina Klages, Sudip Kundu, Joachim Erlenwein, Michael Elsaesser, Peter Hillemanns, Alexander Scharf, Ismini Staboulidou
PURPOSE: Invasive prenatal diagnostic procedures, such as chorion villus sampling (CVS) and amniocentesis (AC), are routinely performed to exclude or diagnose fetal chromosomal abnormalities. The aim of this study was to investigate anxiety-dependent pain experience during CVS and AC and the potential factors that increase anxiety and pain levels. PATIENTS AND METHODS: During a 2-year period, women undergoing invasive procedures in three specialist centers were asked to participate in the study...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28327375/value-of-placental-volume-and-vascular-flow-indices-as-predictors-of-intrauterine-growth-retardation
#5
Nieves L González-González, Enrique González-Dávila, Lidia González Marrero, Erika Padrón, José R Conde, Walter Plasencia
OBJECTIVE: To evaluate the utility of first-trimester placental volume and vascular flow indices to predict intrauterine growth retardation (IUGR). STUDY DESIGN: In 1004 singleton pregnancies attending routine care we recorded maternal characteristics, biophysical and biochemical factors included in the first trimester screening for aneuploidy (FTSA) and uterine artery pulsatility index (PI). Placental volume, Vascularization Index, Flow Index and Vascularization Flow Index were obtained...
March 6, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#6
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28325915/prognostic-value-of-ca20-a-score-based-on-centrosome-amplification-associated-genes-in-breast-tumors
#7
Angela Ogden, Padmashree C G Rida, Ritu Aneja
Centrosome amplification (CA) is a hallmark of cancer, observable in ≥75% of breast tumors. CA drives aggressive cellular phenotypes such as chromosomal instability (CIN) and invasiveness. Thus, assessment of CA may offer insights into the prognosis of breast cancer and identify patients who might benefit from centrosome declustering agents. However, it remains unclear whether CA is correlated with clinical outcomes after adjusting for confounding factors. To gain insights, we developed a signature, "CA20", comprising centrosome structural genes and genes whose dysregulation is implicated in inducing CA...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322033/prenatal-diagnosis-of-aberrant-right-subclavian-artery-in-an-unselected-population
#8
Mi Jin Song, Byoung Hee Han, Young-Hwa Kim, So Young Yoon, Yoo Mi Lee, Hye Su Jeon, Bo Kyung Park
Purpose: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other congenital anomalies. Methods: In all, 7,547 fetuses (gestational age, 20 to 34 weeks) were examined using routine antenatal sonography at our institution between April 2014 and September 2015. The right subclavian artery was assessed using grayscale and color Doppler ultrasonography in the transverse 3-vessel and tracheal view, and confirmed in the coronal plane...
February 20, 2017: Ultrasonography
https://www.readbyqxmd.com/read/28321529/the-cumulative-dose-of-gonadotropins-used-for-controlled-ovarian-stimulation-does-not-influence-the-odds-of-embryonic-aneuploidy-in-patients-with-normal-ovarian-response
#9
Lucky Sekhon, Kathryn Shaia, Anthony Santistevan, Karen Hunter Cohn, Joseph A Lee, Piraye Yurttas Beim, Alan B Copperman
OBJECTIVE: Controlled ovarian hyperstimulation (COH) promotes multifollicular growth, increasing the chance of obtaining euploid embryos that will successfully implant. Whether aneuploidy is increased from COH with exogenous gonadotropins interfering with natural selection of dominant follicles is a concern. This study evaluates the association between gonadotropin exposure and aneuploidy. METHODS: This is a retrospective cohort study of 828 patients that underwent 1122 IVF cycles involving controlled ovarian stimulation and trophectoderm biopsy for preimplantation genetic screening (PGS), from 2010 to 2015...
March 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28320919/pan-cancer-analysis-distinguishes-transcriptional-changes-of-aneuploidy-from-proliferation
#10
Christopher Buccitelli, Lorena Salgueiro, Konstantina Rowald, Rocio Sotillo, Balca R Mardin, Jan O Korbel
Patterns of gene expression in tumors can arise as a consequence of or result in genomic instability, characterized by the accumulation of somatic copy number alterations (SCNAs) and point mutations (PMs). Expression signatures have been widely used as markers for genomic instability, and both SCNAs and PMs could be thought to associate with distinct signatures given their different formation mechanisms. Here we test this notion by systematically investigating SCNA, PM, and transcriptome data from 2660 cancer patients representing 11 tumor types...
March 20, 2017: Genome Research
https://www.readbyqxmd.com/read/28318788/hormesis-commonly-observed-in-the-assessment-of-aneuploidy-in-yeast
#11
REVIEW
Edward J Calabrese
Extensive dose response studies have assessed the potential of toxic chemical agents to induce aneuploidy in the yeast model. An assessment of such findings revealed that hormetic-like biphasic dose responses were commonly observed. A preliminary estimate of the frequency of the hormetic responses using a priori entry and evaluative criteria was approximately 65-80%.
March 17, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28318489/deletion-of-the-mad2l1-spindle-assembly-checkpoint-gene-is-tolerated-in-mouse-models-of-acute-t-cell-lymphoma-and-hepatocellular-carcinoma
#12
Floris Foijer, Lee A Albacker, Bjorn Bakker, Diana C Spierings, Ying Yue, Stephanie Z Xie, Stephanie H Davis, Annegret Lutum-Jehle, Darin Takemoto, Brian Hare, Brinley Furey, Roderick T Bronson, Peter M Lansdorp, Allan Bradley, Peter K Sorger
Chromosome instability (CIN) is deleterious to normal cells because of the burden of aneuploidy. However, most human solid tumors have an abnormal karyotype implying that gain and loss of chromosomes by cancer cells confers a selective advantage. CIN can be induced in the mouse by inactivating the spindle assembly checkpoint. This is lethal in the germline but we show here that adult T cells and hepatocytes can survive conditional inactivation of the Mad2l1 SAC gene and resulting CIN. This causes rapid onset of acute lymphoblastic leukemia (T-ALL) and progressive development of hepatocellular carcinoma (HCC), both lethal diseases...
March 20, 2017: ELife
https://www.readbyqxmd.com/read/28317207/hidden-high-rate-of-preeclampsia-in-twin-compared-to-singleton-pregnancies
#13
Carla Francisco, David Wright, Zsófia Benkő, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: To examine the gestational age at delivery with and without preeclampsia (PE) in dichorionic (DC) and monochorionic (MC) twin pregnancies and determine the relative risk for total and preterm-PE compared to singleton pregnancies. METHODS: This was a screening study for PE in twin pregnancies undergoing first-trimester combined screening for aneuploidy and subsequently delivering two phenotypically normal live or stillborn babies at ≥24 weeks' gestation...
March 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28317136/noninvasive-prenatal-screening-at-low-fetal-fraction-comparing-whole-genome-sequencing-and-single-nucleotide-polymorphism-methods
#14
Carlo G Artieri, Carrie Haverty, Eric A Evans, James D Goldberg, Imran S Haque, Yuval Yaron, Dale Muzzey
OBJECTIVE: Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails samples below a predetermined fetal fraction threshold, whereas some laboratories employing the whole-genome sequencing (WGS) method report aneuploidy calls for all samples. Here, the performance of the two methods was compared to determine which approach actually detects more fetal aneuploidies...
March 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28316130/simultaneous-use-of-multiplex-ligation-dependent-probe-amplification-assay-and-flow-cytometric-dna-ploidy-analysis-in-patients-with-acute-leukemia
#15
Virginia Reyes-Núñez, Evelyn Galo-Hooker, Beatriz Pérez-Romano, Ricardo E Duque, Alejandro Ruiz-Arguelles, Javier Garcés-Eisele
BACKGROUND: The aim of this work was to simultaneously use multiplex ligation-dependent probe amplification assay and flow cytometric DNA ploidy analysis to detect aneuploidy in patients with newly diagnosed acute leukemia. METHODS: Multiplex ligation-dependent probe amplification assay and propidium iodide flow cytometric DNA ploidy analysis were used to test samples from 53 consecutive patients with newly diagnosed acute leukemia referred to our laboratory for immunophenotyping...
March 18, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28314818/allometric-analysis-detects-brain-size-independent-effects-of-sex-and-sex-chromosome-complement-on-human-cerebellar-organization
#16
Catherine Mankiw, Min Tae M Park, P K Reardon, Ari M Fish, Liv S Clasen, Deanna Greenstein, Jay N Giedd, Jonathan D Blumenthal, Jason P Lerch, M Mallar Chakravarty, Armin Raznahan
The cerebellum is a large hindbrain structure that is increasingly recognized for its contribution to diverse domains of cognitive and affective processing in human health and disease. Although several of these domains are sex-biased, our fundamental understanding of cerebellar sex differences - including their spatial distribution, potential biological determinants, and independence from brain volume variation - lags far behind that for the cerebrum. Here, we harness automated neuroimaging methods for cerebellar morphometrics in 417 individuals to (i) localize normative male-female differences in raw cerebellar volume, (ii) compare these to sex chromosome effects estimated across five rare X-/Y-chromosome aneuploidy (SCA) syndromes, and (iii) clarify brain size-independent effects of sex and SCA on cerebellar anatomy using a generalizable allometric approach which considers scaling relationships between regional cerebellar volume and brain volume in health...
March 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28306738/comparative-evaluation-of-the-minimally-invasive-karyotyping-mink-algorithm-for-non-invasive-prenatal-testing
#17
Tianjiao Chu, Patricia A Shaw, Suveyda Yeniterzi, Mary Dunkel, Aleksander Rajkovic, W Allen Hogge, Kimberly D Bunce, David G Peters
Minimally Invasive Karyotyping (MINK) was communicated in 2009 as a novel method for the non-invasive detection of fetal copy number anomalies in maternal plasma DNA. The original manuscript illustrated the potential of MINK using a model system in which fragmented genomic DNA obtained from a trisomy 21 male individual was mixed with that of his karyotypically normal mother at dilutions representing fetal fractions found in maternal plasma. Although it has been previously shown that MINK is able to non-invasively detect fetal microdeletions, its utility for aneuploidy detection in maternal plasma has not previously been demonstrated...
2017: PloS One
https://www.readbyqxmd.com/read/28302748/smc5-6-is-required-for-the-formation-of-segregation-competent-bivalent-chromosomes-during-meiosis-i-in-mouse-oocytes
#18
Grace Hwang, Fengyun Sun, Marilyn O'Brien, John J Eppig, Mary Ann Handel, Philip W Jordan
SMC complexes include three major classes: cohesin, condensin, and SMC5/6. However, the localization pattern and genetic requirements for the SMC5/6 complex during mammalian oogenesis had not previously been examined. In mouse oocytes, the SMC5/6 complex is enriched at the pericentromeric heterochromatin, and also localizes along chromosome arms during meiosis. The infertility phenotypes of females with a Zp3-Cre-driven conditional knockout (cKO) of Smc5 demonstrated that maternally expressed SMC5 protein is essential for early embryogenesis...
March 16, 2017: Development
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#19
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28298214/climat-het-detecting-subclonal-copy-number-alterations-and-loss-of-heterozygosity-in-heterogeneous-tumor-samples-from-whole-genome-sequencing-data
#20
Zhenhua Yu, Ao Li, Minghui Wang
BACKGROUND: Copy number alterations (CNA) and loss of heterozygosity (LOH) represent a large proportion of genetic structural variations of cancer genomes. These aberrations are continuously accumulated during the procedure of clonal evolution and patterned by phylogenetic branching. This invariably results in the emergence of multiple cell populations with distinct complement of mutational landscapes in tumor sample. With the advent of next-generation sequencing technology, inference of subclonal populations has become one of the focused interests in cancer-associated studies, and is usually based on the assessment of combinations of somatic single-nucleotide variations (SNV), CNA and LOH...
March 15, 2017: BMC Medical Genomics
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