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Trisomy 21

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https://www.readbyqxmd.com/read/28733957/a-review-of-biomarkers-for-alzheimer-s-disease-in-down-syndrome
#1
REVIEW
Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Down syndrome (Trisomy 21; DS) is a unique disease known to be associated with early-onset Alzheimer's disease (AD). The initial presentation of AD in DS is usually difficult to recognize, owing to the underlying intellectual disabilities. Using biomarkers as a prediction tool for detecting AD in at-risk people with DS may benefit patient care. The objective of this review is to discuss the utility of biomarkers in DS on the basis of the pathophysiology of the disease and to provide an update on recent studies in this field...
July 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/28728213/performance-of-non-invasive-prenatal-screening-for-fetal-aneuploidy-in-twin-pregnancies-a-meta-analysis
#2
Hong Liao, Shanling Liu, He Wang
OBJECTIVE: The objective of this study was to review the published studies of non-invasive prenatal screening (NIPS) in twin pregnancies and to evaluate the performance for screening fetal trisomies 21, 18, and 13 in twin pregnancies. METHOD: Ten eligible studies were included in this meta-analysis. Data analysis, heterogeneity exploring, meta-regression and subgroup analysis were all conducted with Meta-DiSc 1.4. Quality assessments were carried out with the Quality Assessment Tool for Diagnostic Accuracy Studies (QUADAS-2)...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28723764/increased-nuchal-translucency-in-fetuses-with-a-normal-karyotype-diagnosis-and-management-an-observational-study
#3
Demetra Socolov, Razvan Socolov, Vlad Eusebiu Gorduza, Tudor Butureanu, Ruxandra Stanculescu, Alexandru Carauleanu, Ioana Pavaleanu
The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal aneuploidies are also associated with increased NT, which can also be detected in normal fetuses. This study sought to evaluate the causes of this ultrasound sign in a group of patients from Iasi, Romania.During the decade-long study period, there were 71 certified cases involving increased NT; the patients in these cases underwent diagnostic amniocentesis and karyotyping...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28717969/decreasing-the-expression-of-gabaa-%C3%AE-5-subunit-containing-receptors-partially-improves-cognitive-electrophysiological-and-morphological-hippocampal-defects-in-the-ts65dn-model-of-down-syndrome
#4
Verónica Vidal, Susana García-Cerro, Paula Martínez, Andrea Corrales, Sara Lantigua, Rebeca Vidal, Noemí Rueda, Laurence Ozmen, Maria-Clemencia Hernández, Carmen Martínez-Cué
Trisomy 21 or Down syndrome (DS) is the most common cause of intellectual disability of a genetic origin. The Ts65Dn (TS) mouse, which is the most commonly used and best-characterized mouse model of DS, displays many of the cognitive, neuromorphological, and biochemical anomalies that are found in the human condition. One of the mechanisms that have been proposed to be responsible for the cognitive deficits in this mouse model is impaired GABA-mediated inhibition. Because of the well-known modulatory role of GABAA α5 subunit-containing receptors in cognitive processes, these receptors are considered to be potential targets for improving the intellectual disability in DS...
July 17, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28717645/whole-genome-amplification-of-day-3-or-day-5-human-embryos-biopsies-provides-a-suitable-dna-template-for-pcr-based-techniques-for-genotyping-a-complement-of-preimplantation-genetic-testing
#5
Elizabeth Schaeffer, Bruno López-Bayghen, Adina Neumann, Leonardo M Porchia, Rafael Camacho, Efraín Garrido, Rocío Gómez, Felipe Camargo, Esther López-Bayghen
Our objective was to determine if whole genome amplification (WGA) provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3) or trophoblastic cells (Day 5) were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo's sex, qPCR melting curve analysis for SRY and DYS14 was used. Logistic regression indicated a 4.4%, 57.1%, or 98.8% probability of a male embryo when neither gene, SRY only, or both genes were detected, respectively (accuracy = 94...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28707139/patients-knowledge-of-prenatal-screening-for-trisomy-21
#6
Michal Sheinis, Kira Bensimon, Amanda Selk
This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Twenty-eight point one percent of women did not receive any counseling. Overall, 29.5% of women did not know that the screening test was optional and 10...
July 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28702698/principles-of-first-trimester-screening-in-the-age-of-non-invasive-prenatal-diagnosis-screening-for-chromosomal-abnormalities
#7
REVIEW
Karl Oliver Kagan, Jiri Sonek, Philipp Wagner, Markus Hoopmann
PURPOSE: First trimester risk assessment for chromosomal abnormalities plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s, when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and it is often combined with a cell-free DNA (cfDNA) analysis as a secondary test. METHODS: A search of the Medline and Embase databases was done looking for articles about first trimester aneuploidy screening...
July 12, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28702511/variation-in-the-zinc-finger-of-prdm9-is-associated-with-the-absence-of-recombination-along-nondisjoined-chromosomes-21-of-maternal-origin
#8
Tiffany Renee Oliver, Candace Middlebrooks, Ariel Harden, Nyeisha Scott, Blair Johnson, Jillian Jones, Christin Walker, Corinthia Wilkerson, Sha-Hanna Saffold, Abisola Akinseye, Tunde Smith, Eleanor Feingold, Stephanie L Sherman
Variation in the zinc finger-binding domain (ZFBD) of the protein PR Domain-Containing Protein 9 (PRDM9) is associated with altered placement of recombination in the human genome. As both the absence and altered placement of recombination are observed among chromosomes 21 that nondisjoin, we genotyped the PRDM9 ZFBD among mothers of children with Trisomy 21 in efforts to determine if variation within this region is associated with the recombination-related risk for chromosome 21 nondisjunction (NDJ). In our approach, PCR was used to amplify the ZFBD of PRDM9 and products were then subjected to bi-directional Sanger sequencing...
December 2016: J Down Syndr Chromosom Abnorm
https://www.readbyqxmd.com/read/28695546/knockdown-of-myo-inositol-transporter-smit1-normalizes-cholinergic-and-glutamatergic-function-in-an-immortalized-cell-line-established-from-the-cerebral-cortex-of-a-trisomy-16-fetal-mouse-an-animal-model-of-human-trisomy-21-down-syndrome
#9
Ana María Cárdenas, Paola Fernández-Olivares, Ignacio Díaz-Franulic, Arlek M González-Jamett, Takeshi Shimahara, Juan Segura-Aguilar, Raúl Caviedes, Pablo Caviedes
The Na(+)/myo-inositol cotransporter (SMIT1) is overexpressed in human Down syndrome (DS) and in trisomy 16 fetal mice (Ts16), an animal model of the human condition. SMIT1 overexpression determines increased levels of intracellular myo-inositol, a precursor of phophoinositide synthesis. SMIT1 is overexpressed in CTb cells, an immortalized cell line established from the cerebral cortex of a Ts16 mouse fetus. CTb cells exhibit impaired cytosolic Ca(2+) signals in response to glutamatergic and cholinergic stimuli (increased amplitude and delayed time-dependent kinetics in the decay post-stimulation), compared to our CNh cell line, derived from the cerebral cortex of a euploid animal...
July 10, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#10
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28686807/systematic-review-and-meta-analysis-of-non-invasive-prenatal-dna-testing-for-trisomy-21-implications-for-implementation-in-china
#11
Jiajie Jin, Junwen Yang, Yingyao Chen, Jiayan Huang
OBJECTIVES: To systematically review clinical validation studies of MPS technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries. METHODS: Searches of the Cochrane Library, Medline, EMBASE, Web of Science, Biosis Previews and three major Chinese databases were performed to identify all the peer-reviewed articles published between January 1st, 2011 and October 15th, 2016...
July 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28682865/overall-evaluation-of-the-clinical-value-of-prenatal-screening-for-fetal-free-dna-in-maternal-blood
#12
Bin Yu, Bei-Yi Lu, Bin Zhang, Xiao-Qing Zhang, Ying-Ping Chen, Qin Zhou, Jian Jiang, Hui-Yan Wang
OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28674291/comprehensive-analyses-of-molecules-with-altered-expression-in-the-brain-of-a-mouse-model-of-down-syndrome-for-identification-of-pharmacotherapeutic-targets
#13
Keiichi Ishihara
 Down syndrome, caused by the triplication of human chromosome 21, is the most frequent genetic cause of mental retardation. Mice with a segmental trisomy for mouse chromosome 16, which is orthologous to human chromosome 21, exhibit abnormalities similar to those in individuals with Down syndrome and therefore offer the opportunity for a genotype-phenotype correlation. In the current review, I present several mouse lines with trisomic regions of various lengths and discuss their usefulness for elucidating the mechanisms underlying Down syndrome-associated developmental cognitive disabilities...
2017: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/28674289/molecular-mechanism-underlying-abnormal-differentiation-of-neural-progenitor-cells-in-the-developing-down-syndrome-brain
#14
Nobuhiro Kurabayashi, Kamon Sanada
 Down syndrome (DS) is caused by trisomy for human chromosome 21. Individuals with DS commonly exhibit mental retardation, which is associated with abnormal brain development. In the neocortex of the DS brain, the density of neurons is markedly reduced, whereas that of astrocytes is increased. Similar to abnormalities seen in DS brains, mouse models of DS show deficits in brain development, and neural progenitor cells that give rise to neurons and glia show dysregulation in their differentiation. These suggest that the dysregulation of progenitor fate choices contributes to alterations in the numbers of neurons and astrocytes in the DS brain...
2017: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/28666302/-motherhood-at-the-age-of-35-and-over-the-risk-of-advanced-maternal-age-as-perceived-by-women-a-literature-study
#15
Karin Niessen, Therese Werner-Bierwisch, Sabine Metzing, Friederike Zu Sayn-Wittgenstein
Background Delaying motherhood is an ongoing trend in industrialized countries worldwide. The higher the mother´s age, the greater the risks for fertility, pregnancy, childbearing, and for the newborn. The psychosocial situation of women who are conscious of pregnancy risks is thus negatively affected. This paper aims to answer the question as to how women experience the risks of age. Methodology An systematic search of the international literature was carried out between December 2015 and March 2016, using the electronic databases PubMed, CINAHL, PsycINFO, Sowiport, as well as a manual search...
June 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28665986/impact-of-prenatal-screening-on-the-prevalence-of-down-syndrome-in-slovenia
#16
Gorazd Rudolf, Nataša Tul, Ivan Verdenik, Marija Volk, Anamarija Brezigar, Nadja Kokalj Vokač, Nataša Jeršin, Bernarda Prosenc, Tanja Premru Sršen, Borut Peterlin
OBJECTIVES: To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. DESIGN AND SETTING: Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated. MAIN OUTCOME MEASURES: The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia...
2017: PloS One
https://www.readbyqxmd.com/read/28655063/prenatally-diagnosed-trisomy-21-reply
#17
Amanda Davis
No abstract text is available yet for this article.
June 26, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28654935/prenatally-diagnosed-trisomy-21
#18
Elizabeth V Schulz
No abstract text is available yet for this article.
June 26, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28654552/severe-upper-airway-obstruction-after-intraoperative-transesophageal-echocardiography-in-pediatric-cardiac-surgery-a-retrospective-analysis
#19
Jörg Michel, Michael Hofbeck, Christian Schineis, Matthias Kumpf, Ellen Heimberg, Harry Magunia, Eckhard Schmid, Christian Schlensak, Gunnar Blumenstock, Felix Neunhoeffer
OBJECTIVES: The aim of this study was to evaluate if there is a correlation between the use of intraoperative transesophageal echocardiography and an increased rate of extubation failure and to find other risk factors for severe upper airway obstructions after pediatric cardiac surgery. DESIGN: Retrospective analysis. SETTING: Cardiac PICU. PATIENTS: Patients 24 months old or younger who underwent surgery for congenital heart disease with cardiopulmonary bypass were retrospectively enrolled and divided into two groups depending on whether they received an intraoperative transesophageal echocardiography or not...
June 24, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28651891/neuroanatomical-alterations-and-synaptic-plasticity-impairment-in-the-perirhinal-cortex-of-the-ts65dn-mouse-model-of-down-syndrome
#20
Vincenzo Roncacé, Costanza Burattini, Fiorenza Stagni, Sandra Guidi, Andrea Giacomini, Marco Emili, Giorgio Aicardi, Renata Bartesaghi
Down syndrome (DS), a genetic condition due to triplication of Chromosome 21, is characterized by numerous neurodevelopmental alterations and intellectual disability. Individuals with DS and DS mouse models are impaired in several memory domains, including hippocampus-dependent declarative (spatial, in rodents) memory and visual recognition memory, a form of memory in which the perirhinal cortex (PRC) plays a fundamental role. The anatomo-functional substrates of hippocampus-dependent memory impairment have been largely elucidated in the Ts65Dn mouse model of DS...
June 23, 2017: Neurobiology of Disease
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