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Trisomy 21

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https://www.readbyqxmd.com/read/29452576/assessing-retention-in-care-after-12-months-of-the-pediatric-development-clinic-implementation-in-rural-rwanda-a-retrospective-cohort-study
#1
Scheilla Bayitondere, Francois Biziyaremye, Catherine M Kirk, Hema Magge, Katrina Hann, Kim Wilson, Christine Mutaganzwa, Eric Ngabireyimana, Fulgence Nkikabahizi, Evelyne Shema, David B Tugizimana, Ann C Miller
BACKGROUND: In Africa, a high proportion of children are at risk for developmental delay. Early interventions are known to improve outcomes, but they are not routinely available. The Rwandan Ministry of Health with Partners In Health/Inshuti Mu Buzima created the Pediatric Development Clinic (PDC) model for providing interdisciplinary developmental care for high-risk infants in rural settings. As retention for chronic care has proven challenging in many settings, this study assesses factors related to retention to care after 12 months of clinic enrollment...
February 16, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29437810/down-syndrome-with-posterior-cortical-atrophy
#2
Claire Boutoleau-Bretonnière, Amandine Pallardy
Down syndrome (DS) is caused by trisomy of chromosome 21. The average age of onset of Alzheimer's disease (AD) ranged from 50 to 55 years in DS, with early symptoms usually characterised by changes in behaviour and executive dysfunction. On the other hand, posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome characterised by progressive impairment of visual functions in the absence of visual deficits and a pattern of atrophy involving posterior cortex. This syndrome is mostly caused by AD pathology...
February 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29435140/triplications-of-human-chromosome-21-orthologous-regions-in-mice-result-in-expansion-of-megakaryocyte-erythroid-progenitors-and-reduction-of-granulocyte-macrophage-progenitors
#3
Chunhong Liu, Tao Yu, Zhuo Xing, Xiaoling Jiang, Yichen Li, Annie Pao, Justin Mu, Paul K Wallace, George Stoica, Andrei V Bakin, Y Eugene Yu
Individuals with Down syndrome (DS) frequently have hematopoietic abnormalities, including transient myeloproliferative disorder and acute megakaryoblastic leukemia which are often accompanied by acquired GATA1 mutations that produce a truncated protein, GATA1s. The mouse has been used for modeling DS based on the syntenic conservation between human chromosome 21 (Hsa21) and three regions in the mouse genome located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. To assess the impact of the dosage increase of Hsa21 gene orthologs on the hematopoietic system, we characterized the related phenotype in the Dp(10)1Yey/+;Dp(16)1Yey/+;Dp(17)1Yey/+ model which carries duplications spanning the entire Hsa21 orthologous regions on Mmu10, Mmu16 and Mmu17, and the Dp(10)1Yey /+; Dp(16)1Yey /+; Dp(17)1Yey/+ ; Gata1 Yeym2 model which carries a Gata1s mutation we engineered...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29434250/dyrk1a-inhibition-and-cognitive-rescue-in-a-down-syndrome-mouse-model-are-induced-by-new-fluoro-dandy-derivatives
#4
Fernanda Neumann, Stéphanie Gourdain, Christelle Albac, Alain D Dekker, Linh Chi Bui, Julien Dairou, Isabelle Schmitz-Afonso, Nathalie Hue, Fernando Rodrigues-Lima, Jean M Delabar, Marie-Claude Potier, Jean-Pierre Le Caër, David Touboul, Benoît Delatour, Kevin Cariou, Robert H Dodd
Inhibition of DYRK1A kinase, produced by chromosome 21 and consequently overproduced in trisomy 21 subjects, has been suggested as a therapeutic approach to treating the cognitive deficiencies observed in Down syndrome (DS). We now report the synthesis and potent DYRK1A inhibitory activities of fluoro derivatives of 3,5-di(polyhydroxyaryl)-7-azaindoles (F-DANDYs). One of these compounds (3-(4-fluorophenyl)-5-(3,4-dihydroxyphenyl)-1H-pyrrolo[2,3-b]pyridine, 5a) was selected for in vivo studies of cognitive rescuing effects in a standard mouse model of DS (Ts65Dn line)...
February 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29433355/what-would-be-missed-in-the-first-trimester-if-nuchal-translucency-measurement-is-replaced-by-cell-free-dna-foetal-aneuploidy-screening
#5
Lv-Yin Huang, Min Pan, Jin Han, Li Zhen, Xin Yang, Dong-Zhi Li
The aim of this study was to evaluate which chromosomal abnormalities in our cohort of foetuses with increased nuchal translucency (NT) in the first trimester of pregnancy could be detected by cell free (cf)DNA screening as well. There were 775 singleton pregnancies referred for cytogenetic testing due to an increased NT (≥3.0 mm). Chromosome aberrations were investigated using karyotyping or chromosomal microarray analysis (CMA). Karyotyping had been chosen for foetal cytogenetic testing by 446 patients, and CMA by 329 patients...
February 12, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29420407/maternal-malignancy-evaluation-after-discordant-cell-free-dna-results
#6
Laura M Carlson, Emily Hardisty, Catherine C Coombs, Neeta L Vora
Cell-free DNA screening for fetal aneuploidy is a commonly used testing strategy in pregnancies at high risk for fetal aneuploidy. The use of cell-free DNA screening is expanding to the low-risk population, because the detection rate for trisomy 21 surpasses that of traditional screening modalities. Although the sensitivity and specificity of cell-free DNA are superior to traditional screening, false-positive results do occur and may indicate an adverse maternal health condition, including maternal mosaicism or, rarely, malignancy...
February 5, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29419860/-performance-of-prenatal-screening-by-non-invasive-cell-free-fetal-dna-testing-for-women-with-various-indications
#7
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29417599/obstetricians-views-on-the-ethics-of-cardiac-surgery-for-newborns-with-common-aneuploidies
#8
Gary Fruhman, Collin Miller, Erol Amon, Darbey Raible, Rachael Bradshaw, Kimberly Martin
OBJECTIVE: To examine whether obstetricians think that cardiac surgery is ethical in babies with common aneuploidies and whether insurance companies should be required to pay for these surgeries. STUDY DESIGN: A survey was e-mailed to 2,897 OB-GYNs and 898 (31%) actively practicing obstetricians responded to the survey. Respondents were asked whether it is ethical to offer cardiac surgery for babies with heart defects diagnosed with trisomies 21, 18, 13, and Turner Syndrome and whether insurance companies should be required to pay for such surgeries in cases of trisomy 18 or 13...
February 7, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29416566/can-telomere-shortening-be-the-main-indicator-of-non-viable-fetus-elimination
#9
Nataliya Huleyuk, Iryna Tkach, Danuta Zastavna, Miroslaw Tyrka
Background: Telomeres are transcriptionally inactive genomic areas, which, if shortened, are associated with pathological processes, unsuccessful fertilization, aging, and death. Telomere dysfunction has also been linked to chromosomal rearrangements and genomic instability. The role of telomeres in postnatal life has been extensively studied and discussed both in physiological as well as in pathological processes. However, the role of telomere length in prenatal development is still poorly understood, and mainly concerns the preimplantation stage...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29411666/asxl1-mutations-in-aml-are-associated-with-specific-clinical-and-cytogenetic-characteristics
#10
Katerina Kakosaiou, Fotios Panitsas, Aggeliki Daraki, Maria Pagoni, Paraskevi Apostolou, Agapi Ioannidou, Ioanna Vlachadami, Theodoros Marinakis, Chara Giatra, Diamantina Vasilatou, Constantina Sambani, Vassiliki Pappa, Kalliopi N Manola
Mutations of ASXL1 are early events in acute myeloid leukemia (AML) leukemogenesis and have been associated with unfavorable prognosis. In this study, we investigated the type and frequency of ASXL1 mutations in a large cohort of patients with de novo or secondary AML (s-AML) and looked for correlations with cytogenetic findings and disease features. ASXL1 mutations were associated with older age, s-AML and higher peripheral leukocytosis. We observed more frequent co-occurrence of ASXL1 mutations with trisomy 8 and chromosome 11 aberrations but a negative correlation with myelodysplastic syndromes (MDS)-related cytogenetic abnormalities, especially -5/del(5q) and -7/del(7q)...
February 7, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29403643/down-syndrome-and-micrornas
#11
Aldina Brás, António S Rodrigues, Bruno Gomes, José Rueff
In recent years numerous studies have indicated the importance of microRNAs (miRNA/miRs) in human pathology. Down syndrome (DS) is the most prevalent survivable chromosomal disorder and is attributed to trisomy 21 and the subsequent alteration of the dosage of genes located on this chromosome. A number of miRNAs are overexpressed in down syndrome, including miR-155, miR-802, miR- 125b-2, let-7c and miR-99a. This overexpression may contribute to the neuropathology, congenital heart defects, leukemia and low rate of solid tumor development observed in patients with DS...
January 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29396076/-what-are-the-real-purpose-and-scope-of-screening-for-aneuploidy
#12
T Quibel, P Rozenberg
In France, the recommended method for Down syndrome screening is the first trimester combined test, the risk assessment, based on maternal age, ultrasound measurement of fetal nuchal translucency and maternal serum markers (free β-hCG and PAPP-A). The Down syndrome detection rate is 78.7% at a screen positive rate of 5%. However, the best screening test is the integrated test using a combination of first trimester combined test and second trimester quadruple test (serum α-fetoprotein, human chorionic gonadotropin, unconjugated E3, and dimeric inhibin-A) and being able to achieve a detection rate for Down syndrome of approximately 96% at a screen-positive rate of 5%...
January 27, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29388226/predicting-fetoplacental-chromosomal-mosaicism-during-non-invasive-prenatal-testing
#13
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cfDNA in the maternal blood plasma. However, false positive and negative NIPT results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA (cfDNA) screening. METHOD: Aneuploidy detection was combined with fetal fraction determination to enable the detection of placental mosaicism...
January 31, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29377646/stillborn-infants-associated-malformations
#14
Lewis B Holmes, Hanah Nasri, Rebecca Beroukhim, Anne-Therese Hunt, Drucilla J Roberts, M Hassan Toufaily, Marie-Noel Westgate
BACKGROUND: Stillbirth, defined as death of a fetus in utero after 20 weeks of gestation, occurs in 1 to 2% of pregnancies in the United States. Many of these stillborn infants have associated malformations, including chromosome abnormalities, neural tube defects, and malformation syndromes. Other causes are abnormalities of the placenta and maternal conditions, such as pre-eclampsia and obesity. A consecutive sample of malformed stillborn infants can establish the relative frequency and severity of the associated malformations...
January 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29377389/modified-methylated-dna-immunoprecipitation-protocol-for-noninvasive-prenatal-diagnosis-of-down-syndrome
#15
Fatemeh Karami, Mohammad R Noori-Daloii, Kobra Omidfar, Mina Tabrizi, Seddigheh Hantooshzadeh, Ashraf Aleyasin, Maryam Daneshpour, Mohammad H Modarressi
AIM: Methylated DNA immunoprecipitation real-time quantitative polymerase chain reaction (MeDIP-real-time qPCR) has been introduced as noninvasive prenatal test that has shown absolute detection rate in the screening of Down syndrome. Herein, we aimed to propose a novel modification of MeDIP-qPCR and assess its potential to alleviate the overall cost of the test, being used in very early weeks of pregnancy, and develop it to a noninvasive prenatal diagnosis biosensor in future researches...
January 26, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29368276/investigating-pregnancy-outcomes-after-abnormal-cell-free-dna-test-results
#16
Jessica Lu, Devereux N Saller, Luanne M Fraer, Beatrice A Chen
Cell-free DNA (cfDNA) testing has increased sensitivity and specificity compared to other prenatal screening methods, but invasive diagnostic testing (IDT) is recommended for confirmation. We performed a retrospective chart review of 39 women with abnormal cfDNA results between March 2012 and September 2015 at an urban academic hospital to evaluate patient choice and pregnancy outcomes. We analyzed data using descriptive statistics, Fisher's exact tests, and Wilcoxon rank-sum tests. Median maternal age was 36...
January 24, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29363829/genome-wide-non-invasive-prenatal-screening-for-all-cytogenetically-visible-imbalances
#17
EDITORIAL
Peter Benn, Francesca Romana Grati
The fetal component of maternal plasma cell-free DNA is primarily derived from cytotrophoblasts and this is the same lineage as the cells routinely analyzed in chorionic villus sample (CVS) direct or semi-direct preparations. We therefore developed an initial theoretical projection for a genome-wide non-invasive prenatal test (NIPT) under an assumption that will identify a similar spectrum of cytogenetically unbalanced abnormalities. The specific chromosome abnormalities likely to be detected, additional studies, clinical interpretation issues and counseling burden were considered...
January 24, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29355285/subpleural-lung-cysts-in-children-with-trisomy-21
#18
Michael Tc Lim, Jeevesh Kapur, Bharath Kr Reddy, Srikanta T Jingade, Daniel Yt Goh, Mahesh B Ramamurthy
No abstract text is available yet for this article.
December 2017: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/29353507/increased-prevalence-of-abnormal-vertebral-patterning-in-fetuses-and-neonates-with-trisomy-21
#19
Pauline C Schut, Clara M A Ten Broek, Titia E Cohen-Overbeek, Marianna Bugiani, Eric A P Steegers, Alex J Eggink, Frietson Galis
PURPOSE: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. MATERIALS AND METHODS: Radiographs of 67 deceased fetuses, neonates and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology...
January 21, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29353506/evaluation-of-the-impact-of-sperm-morphology-on-embryo-aneuploidy-rates-in-a-donor-oocyte-program
#20
Onder Coban, Munevver Serdarogullari, Zehra Onar Sekerci, Ekrem Murat Bilgin, Nedime Serakinci
This study investigates the correlation between sperm morphology and the incidence of embryo aneuploidy in an oocyte donation program. A total of 1,165 embryos from 103 patients have been analyzed by fluorescent in situ hybridization (FISH) for numerical abnormalities in chromosome numbers 13, 18, 21, X, and Y. Data has been evaluated in five groups according to sperm morphology, which has been assessed according to the Kruger's strict criteria. The results did not show any difference in paternal (p = 0.878), maternal (p = 0...
January 20, 2018: Systems Biology in Reproductive Medicine
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