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Aneuploidy

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https://www.readbyqxmd.com/read/28636094/characterization-of-clonal-philadelphia-negative-cytogenetic-abnormalities-in-a-large-cohort-of-chronic-myeloid-leukemia
#1
Xiangjun Chen, Jine Zheng, Kaiwei Liang, Yanli He, Wen Du, Juan Li, Wei Liu, Yanjie Hu, Junxia Yao
OBJECTIVES: Clonal Philadelphia-negative Cytogenetic Abnormalities (CPCA) have been reported in chronic myeloid leukaemia (CML) patients treated with either interferon or tyrosine kinase inhibitor (TKI). However, the incidences and types of these cytogenetic abnormalities after treatment vary due to the limited populations enrolled. METHODS: We analysed the frequency and types of CPCA in a cohort of 607 CML patients in the chronic phase after TKI treatment. We also followed up these CPCA with a median of 31...
June 21, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#2
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#3
Maria Giulia Minasi, Francesco Fiorentino, Alessandra Ruberti, Anil Biricik, Elisabetta Cursio, Ettore Cotroneo, Maria Teresa Varricchio, Matteo Surdo, Francesca Spinella, Ermanno Greco
STUDY QUESTION: Can simultaneous detection of aneuploidies and genetic diseases or chromosomal aberrations in blastocysts reduce the chance of transferring embryos with low implantation potential, guaranteeing good clinical outcomes? SUMMARY ANSWER: The screening for chromosomal aneuploidies revealed that 50.6% of blastocysts diagnosed free of genetic disease or balanced, were aneuploid, therefore avoiding the transfer of blastocysts potentially resulting in implantation failures, miscarriages, or in some cases, in health affected live births...
June 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28633018/chromosome-mis-segregation-generates-cell-cycle-arrested-cells-with-complex-karyotypes-that-are-eliminated-by-the-immune-system
#4
Stefano Santaguida, Amelia Richardson, Divya Ramalingam Iyer, Ons M'Saad, Lauren Zasadil, Kristin A Knouse, Yao Liang Wong, Nicholas Rhind, Arshad Desai, Angelika Amon
Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer. Changes in chromosome copy number have been proposed to drive disease by modulating the dosage of cancer driver genes and by promoting cancer genome evolution. Given the potential of cells with abnormal karyotypes to become cancerous, do pathways that limit the prevalence of such cells exist? By investigating the immediate consequences of aneuploidy on cell physiology, we identified mechanisms that eliminate aneuploid cells. We find that chromosome mis-segregation leads to further genomic instability that ultimately causes cell-cycle arrest...
June 19, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28632005/sleep-problems-and-life-satisfaction-as-predictors-of-health-in-men-with-sex-chromosome-aneuploidies
#5
Krister W Fjermestad, Simen Stokke
More knowledge is needed about men with sex chromosome aneuploidies (SCA). We present self-reported data from 53 men with SCA (Mage = 36.8 years, SD = 12.3, range 19-67). The Health Survey-Short Form (SF-36) measured eight health domains (physical functioning, role-physical, role-emotional, vitality, emotional health, social functioning, pain, general health). The Pittsburgh Sleep Quality Index measured sleep problems. The Personal Wellbeing Index measured satisfaction with eight life domains. Compared to norms, SCA reported poorer health (mean d = -0...
February 21, 2017: Behavioral Medicine
https://www.readbyqxmd.com/read/28630940/fluconazole-induced-ploidy-change-in-cryptococcus-neoformans-results-from-the-uncoupling-of-cell-growth-and-nuclear-division
#6
Sophie Altamirano, Diana Fang, Charles Simmons, Shreyas Sridhar, Peipei Wu, Kaustuv Sanyal, Lukasz Kozubowski
Cryptococcus neoformans is a pathogenic yeast that causes lethal cryptococcal meningitis in immunocompromised patients. One of the challenges in treating cryptococcosis is the development of resistance to azole antifungals. Previous studies linked azole resistance to elevated numbers of copies of critical resistance genes in aneuploid cells. However, how aneuploidy is formed in the presence of azole drugs remains unclear. This study showed that treatment with inhibitory concentrations of an azole drug, fluconazole (FLC), resulted in a significant population of cells with increased DNA content, through the following defects: inhibition of budding, premature mitosis, and inhibition of cytokinesis followed by replication in the mother cell...
May 2017: MSphere
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#7
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28627968/severe-myelinopathy-in-49-xxxxy-syndrome
#8
Mark A Buller, Cory M Pfeifer
49,XXXXY is a rare aneuploidy with neuroanatomic findings scarcely reported in the literature. Given the fact that many of its phenotypic characteristics are similar to Klinefelter patients, 49,XXXXY has been treated as a variant of Klinefelter syndrome in the past. Newer studies have shown that intellectual disabilities and cardiac sequelae are more common in 49,XXXXY making the need for more precise characterization of the disorder essential. Prior case studies have demonstrated focal (and to a lesser extent confluent) white abnormalities as well as enlarged perivascular cysts (often in clustered arrangements) in the brains of these patients, but high resolution magnetic resonance images of severe myelinopathy are infrequently documented...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28627647/differences-in-telomerase-activity-and-the-effects-of-azt-in-aneuploid-and-euploid-cells-in-colon-cancer
#9
Xiao Fang, Tenghui Hu, Hua Yin, Junjun Yang, Weian Tang, Siqi Hu, Xingxiang Xu
Telomerase-targeted treatments for cancer have received a great deal of attention because telomerase is detected in nearly all cancer cells but is not expressed in most normal tissues. Aneuploidy refers to a chromosome number that is not a multiple of the base chromosome number and can indicate either hypo- or hyperploid chromosome numbers. Most solid tumors are aneuploid. In the present study, we sought to determine whether there are differences in telomerase activity and hTERT gene expression between aneuploid and euploid cells...
June 14, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28626028/excess-centrosomes-induce-p53-dependent-senescence-without-dna-damage-in-endothelial-cells
#10
Zhixian Yu, Dana L Ruter, Erich J Kushner, Victoria L Bautch
Tumor blood vessels support tumor growth and progression. Centrosomes are microtubule organization centers in cells, and often up to 30% of tumor endothelial cells (ECs) acquire excess (>2) centrosomes. Although excess centrosomes can lead to aneuploidy and chromosome instability in tumor cells, how untransformed ECs respond to excess centrosomes is poorly understood. We found that the frequency of primary human ECs with excess centrosomes was quickly reduced in a p53-dependent manner. Excess centrosomes in ECs were associated with p53 phosphorylation at Ser33, increased p21 levels, and decreased cell proliferation and expression of senescence markers, but independent of DNA damage and apoptosis...
June 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28624713/aneuploidy-identification-in-pre-b-acute-lymphoblastic-leukemia-patients-at-diagnosis-by-multiplex-ligation-dependent-probe-amplification-mlpa
#11
A Vázquez-Reyes, L Bobadilla-Morales, C Barba-Barba, G Macías-Salcedo, G Serafín-Saucedo, M E Velázquez-Rivera, M C Almodóvar-Cuevas, A Márquez-Mora, H J Pimentel-Gutiérrez, C Ortega-de-la-Torre, R M Cruz-Osorio, S Nava-Gervasio, J Rivera-Vargas, F Sánchez-Zubieta, J R Corona-Rivera, A Corona-Rivera
Three-quarters of the patients with acute lymphoblastic leukemia (ALL), show numerical or structural chromosomal alterations, which are important factors in leukemogenesis. The use of Multiplex Ligation-dependent Probes Amplification (MLPA) has been mainly limited for searching copy number alterations of genes, suggesting that MLPA could detect numerical alterations in cancer. However, the use of MLPA in pediatrics to analyze subtelomeric sequences for aneuploidy detection has not been considered in previous studies...
June 1, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28624474/-exposure-to-the-insecticides-permethrin-and-malathion-induces-leukemia-and-lymphoma-associated-gene-aberrations-in-vitro
#12
M P Navarrete-Meneses, C Salas-Labadía, M Sanabrais-Jiménez, J Santana-Hernández, A Serrano-Cuevas, R Juárez-Velázquez, A Olaya-Vargas, P Pérez-Vera
Epidemiological studies have associated the exposure to permethrin and malathion with increased risk of leukemia and lymphoma. The aim of this study was to evaluate whether in vitro exposure to permethrin and malathion induces aberrations in genes involved in the etiology of these hematological malignancies. Genetic abnormalities in the IGH, KMT2A (MLL), ETV6 and RUNX1 genes; and aneuploidy induced by the in vitro exposure to permethrin and malathion (200μM, 24h), were analyzed by FISH in peripheral blood mononuclear cells (PBMCs)...
June 14, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28624415/aging-rather-than-aneuploidy-affects-monoamine-neurotransmitters-in-brain-regions-of-down-syndrome-mouse-models
#13
Alain D Dekker, Yannick Vermeiren, Christelle Albac, Eva Lana-Elola, Sheona Watson-Scales, Dorota Gibbins, Tony Aerts, Debby Van Dam, Elizabeth M C Fisher, Victor L J Tybulewicz, Marie-Claude Potier, Peter P De Deyn
Altered concentrations of monoamine neurotransmitters and metabolites have been repeatedly found in people with Down syndrome (DS, trisomy 21). Because of the limited availability of human post-mortem tissue, DS mouse models are of great interest to study these changes and the underlying neurobiological mechanisms. Although previous studies have shown the potential of Ts65Dn mice - the most widely used mouse model of DS - to model noradrenergic changes, a comprehensive monoaminergic characterization in multiple brain regions has not been performed so far...
June 14, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28618053/association-of-aberrant-right-subclavian-artery-with-abnormal-karyotype-and-microarray-results
#14
Ran Svirsky, Adi Reches, Dana Brabbing-Goldstein, Anat Bar Shira, Yuval Yaron
OBJECTIVES: to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan. METHODS: The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray (CMA), except for 2 samples for which only karyotype and FISH for 22q11...
June 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#15
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#16
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28617148/outcomes-of-ivf-cycles-coupled-with-pgs-by-acgh-of-embryos-from-donor-and-autologous-oocytes-transferred-after-vitrification-to-women-of-advanced-maternal-age
#17
Elena M Fedorova, Svetlana A Shlykova, Ksenia V Shunkina, Olga G Zaitceva, Elena N Lapina, Taras V Yanchuk, Alla S Kalugina
It is well documented that aneuploidy rate in preimplantation embryos increases with the mother's age, and at the same time the number of oocytes diminishes. Consequently, for patients of advanced maternal age two options are available to overcome these limitations: use of oocytes from young donors, or use of own oocytes coupled with preimplantation genetic screening (PGS) for 24 chromosomes. However, it is not clear which strategy might be more effective. The aim of this retrospective study was to evaluate outcomes of IVF cycles coupled with transfer of vitrified embryos from donor or autologous oocytes, both with or without PGS...
June 15, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28615297/disruption-of-aneuploidy-and-senescence-induced-by-aurora-inhibition-promotes-intrinsic-apoptosis-in-double-hit-or-double-expressor-diffuse-large-b-cell-lymphomas
#18
Daruka Mahadevan, Shariful Islam, Wenqing Qi, Carla Morales, Laurence Cooke, Catherine Spier, Eric Weterings
Double Hit (DH) or Double Expressor (DE) diffuse large B-cell lymphoma (DLBCL) are aggressive Non-Hodgkin's Lymphomas (NHLs) with translocations and/or over-expressions of MYC and BCL-2, that are difficult to treat. Aurora kinase (AK) inhibition with alisertib in DH/DE-DLBCL induces cell death in ~30%, while ~70% are aneuploid and senescent cells (AASCs), a mitotic escape mechanism contributing to drug resistance. These AASCs elaborated a high metabolic rate by increased AKT/mTOR and ERK/MAPK activity via BTK signaling through the chronic active B-cell receptor (BCR) pathway...
June 14, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28614636/spermatozoa-with-numerical-chromosomal-abnormalities-are-more-prone-to-be-retained-by-annexin-v-macs-columns
#19
M Esbert, A Godo, S R Soares, M Florensa, D Amorós, A Ballesteros, F Vidal
Colloidal super-paramagnetic microbeads conjugated with annexin V are effective for separating apoptotic spermatozoa by MACS as a result of the high affinity of annexin V for externalized PS molecules. The effectiveness of the procedure in reducing the percentage of sperm with fragmented DNA and abnormal morphology has also been reported. However, it is still unknown if it could decrease the percentage of aneuploid spermatozoa. The objective of our prospective study, performed on 16 males with abnormal FISH on spermatozoa, was to assess if MACS columns were useful tools to retain spermatozoa carrying chromosomal abnormalities in semen samples processed after density gradient centrifugation (DGC)...
June 14, 2017: Andrology
https://www.readbyqxmd.com/read/28612834/sex-chromosome-aneuploidies-and-copy-number-variants-a-further-explanation-for-neurodevelopmental-prognosis-variability
#20
Jessica Le Gall, Mathilde Nizon, Olivier Pichon, Joris Andrieux, Séverine Audebert-Bellanger, Sabine Baron, Claire Beneteau, Frédéric Bilan, Odile Boute, Tiffany Busa, Valérie Cormier-Daire, Claude Ferec, Mélanie Fradin, Brigitte Gilbert-Dussardier, Sylvie Jaillard, Aia Jønch, Dominique Martin-Coignard, Sandra Mercier, Sébastien Moutton, Caroline Rooryck, Elise Schaefer, Marie Vincent, Damien Sanlaville, Cédric Le Caignec, Sébastien Jacquemont, Albert David, Bertrand Isidor
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV)...
June 14, 2017: European Journal of Human Genetics: EJHG
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