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"Trisomy 21"

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https://www.readbyqxmd.com/read/28430800/the-burden-of-trisomy-21-disrupts-the-proteostasis-network-in-down-syndrome
#1
Stefanos Aivazidis, Christina M Coughlan, Abhishek K Rauniyar, Hua Jiang, L Alexander Liggett, Kenneth N Maclean, James R Roede
Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. Abnormalities in chromosome number have the potential to lead to disruption of the proteostasis network (PN) and accumulation of misfolded proteins. DS individuals suffer from several comorbidities, and we hypothesized that disruption of proteostasis could contribute to the observed pathology and decreased cell viability in DS. Our results confirm the presence of a disrupted PN in DS, as several of its elements, including the unfolded protein response, chaperone system, and proteasomal degradation exhibited significant alterations compared to euploid controls in both cell and mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28419500/antepartum-management-and-obstetric-outcomes-among-pregnancies-with-down-syndrome-from-diagnosis-to-delivery
#2
Stephanie H Guseh, Sarah E Little, Katherine Bennett, Virginia Silva, Louise E Wilkins-Haug
OBJECTIVE: Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide antenatal management. METHOD: Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demographic data, diagnostic testing, antenatal surveillance, obstetrics outcomes, and placental pathology. T-test, chi-square, and Fisher correction were used as indicated...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28417531/desmoid-type-fibromatosis-in-a-boy-with-down-syndrome
#3
Hisashi Ishida, Kousuke Chayama, Kiichiro Kanamitsu, Kana Washio, Takehiro Tanaka, Akira Shimada
Patients with Down syndrome (DS) have a markedly higher incidence of childhood leukemia, but a lower incidence of most solid tumors, compared with age-matched euploid individuals. Trisomy 21 might be protective against tumorigenesis because of several tumor suppressive mechanisms. Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by a variable clinical course. In recent reports, almost all cases of DF involved genomic alterations associated with activation of the Wnt/β-catenin pathway...
April 18, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28417514/enlarged-cavum-septi-pellucidi-and-vergae-in-the-fetus-a-cause-for-concern
#4
Yoona K Ho, Michelle Turley, Krishelle L Marc-Aurele, Marilyn C Jones, Elise Housman, Dawn Engelkemier, Lorene E Romine, Paritosh C Khanna, Dolores H Pretorius
OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies...
April 18, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28416000/brain-tuberculoma-an-unusual-cause-of-stroke-in-a-child-with-trisomy-21-a-case-report
#5
Abdelmoneim E M Kheir, Salah A Ibrahim, Ahlam A Hamed, Badreldin M Yousif, Farouk A Hamid
BACKGROUND: Tuberculosis remains a public health problem in developing countries and is associated with lethal central nervous system complications. Intracranial tuberculomas occur in 13% of children with neurotuberculosis. Patients with trisomy 21 have an increased risk for stroke, which usually stems from cardiovascular defects. CASE PRESENTATION: We report a case of a 12-year-old Sudanese boy with trisomy 21 who was presented to our hospital with focal convulsions and right-sided weakness...
April 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28406537/non-invasive-prenatal-screening-versus-prenatal-diagnosis-by-array-comparative-genomic-hybridization-a-comparative-retrospective-study
#6
Alexandros Sotiriadis, Ioannis Papoulidis, Elisavet Siomou, Elena Papageorgiou, Makarios Eleftheriades, Vasilios Papadopoulos, Maria Alexiou, Emmanouil Manolakos, Apostolos Athanasiadis
OBJECTIVE: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). METHODS: This is a comparative study using data from 2,779 fetuses, which underwent invasive prenatal diagnosis and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47,XXX, 47,XYY and 47,XXY. Indications for invasive testing were grouped into categories and the absolute, relative rates of pathogenic/likely pathogenic results of aCGH analysis that would not be detectable by NIPS, were calculated...
April 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28397325/analysis-of-cell-free-dna-in-maternal-blood-in-screening-for-aneuploidies-updated-meta-analysis
#7
REVIEW
M M Gil, V Accurti, B Santacruz, M N Plana, K H Nicolaides
OBJECTIVE: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. DATA SOURCES: Searches of PubMed, Embase and the Cochrane library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published and 31 December 2016...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28397214/-clearance-of-free-fetal-dna-after-delivery-of-fetuses-carrying-chromosomal-aneuploidies
#8
Lifang Wu, Xiaoling Lin, Shaohua Tang, Xueqin Xu, Chong Chen
OBJECTIVE: To explore the rules for free fetal DNA clearance after delivery of fetuses carrying chromosomal aneuploidies. METHODS: For 10 women carrying 18-to-25-gestation-week singletons confirmed to have chromosomal abnormalities by amniotic karyotyping, 5 mL of peripheral venous blood was drawn respectively before and 15 minutes, 30 minutes, 60 minutes, 120 minutes, 3 hours, 6 hours, 9 hours, 12 hours, 24 hours, 48 hours and 72 hours after their elective termination of pregnancies...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28396582/a-pair-of-maternal-chromosomes-derived-from-meiotic-nondisjunction-in-trisomy-21-affects-nuclear-architecture-and-transcriptional-regulation
#9
Sayaka Omori, Hideyuki Tanabe, Kimihiko Banno, Ayumi Tsuji, Nobutoshi Nawa, Katsuya Hirata, Keiji Kawatani, Chikara Kokubu, Junji Takeda, Hidetoshi Taniguchi, Hitomi Arahori, Kazuko Wada, Yasuji Kitabatake, Keiichi Ozono
Eukaryotic genomes are organised into complex higher-order structures within the nucleus, and the three-dimensional arrangement of chromosomes is functionally important for global gene regulation. The existence of supernumerary chromosome 21 in Down syndrome may perturb the nuclear architecture at different levels, which is normally optimised to maintain the physiological balance of gene expression. However, it has not been clearly elucidated whether and how aberrant configuration of chromosomes affects gene activities...
April 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28385172/the-rate-of-invasive-testing-for-trisomy-21-is-reduced-after-implementation-of-nipt
#10
Louise Bjerregaard, Anne Betsagoo Stenbakken, Camilla Skov Andersen, Line Kristensen, Cecilie Vibeke Jensen, Peter Skovbo, Anne Nødgaard Sørensen
INTRODUCTION: The non-invasive prenatal test (NIPT) was introduced in the North Denmark Region in March 2013. NIPT is offered as an alternative to invasive tests if the combined first trimester risk of trisomy 21 (T21) is ≥ 1:300. The purpose of this study was to investigate the effect of NIPT implementation among high-risk pregnancies in a region with existing first-trimester combined screening for T21. The primary objective was to examine the effect on the invasive testing rate. METHODS: This was a retrospective observational study including high-risk singleton pregnancies in the North Denmark Region...
April 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28372492/prenatally-diagnosed-congenital-portosystemic-shunts
#11
Bérengère Francois, Alain Lachaux, Fréderic Gottrand, Stéphanie De Smet
AIM: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period. MATERIALS AND METHODS: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period...
April 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28371411/generation-of-integration-free-induced-pluripotent-stem-cells-from-urine-derived-cells-isolated-from-individuals-with-down-syndrome
#12
Young M Lee, Bruna L Zampieri, Jonah J Scott-McKean, Mark W Johnson, Alberto C S Costa
Down syndrome (DS) is a genetic disorder caused by trisomy 21 (T21). Over the past two decades, the use of mouse models has led to significant advances in the understanding of mechanisms underlying various phenotypic features and comorbidities secondary to T21 and even informed the design of clinical trials aimed at enhancing the cognitive abilities of persons with DS. In spite of its success, this approach has been plagued by all the typical limitations of rodent modeling of human disorders and diseases. Recently, several laboratories have succeeded in producing T21 human induced pluripotent stem cells (T21-iPSCs) from individuals with DS, which is emerging as a promising complementary tool for the study of DS...
March 28, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28369759/diagnostic-performance-and-costs-of-contingent-screening-models-for-trisomy-21-incorporating-non-invasive-prenatal-testing
#13
Susannah Maxwell, Peter O'Leary, Jan E Dickinson, Graeme K Suthers
BACKGROUND: Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. AIM: To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. METHODS: Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test...
March 29, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28369516/comprehensive-chromosome-screening-and-gene-expression-analysis-from-the-same-biopsy-in-human-preimplantation-embryos
#14
Diego Marin, Yujue Wang, Xin Tao, Richard T Scott, Nathan R Treff
STUDY QUESTION: Can simultaneous comprehensive chromosome screening (CCS) and gene expression analysis be performed on the same biopsy of preimplantation human embryos? SUMMARY ANSWER: For the first time, CCS and reliable gene expression analysis have been performed on the same human preimplantation embryo biopsy. WHAT IS KNOWN ALREADY: A single trophectoderm (TE) biopsy is routinely used for many IVF programs offering CCS for selection of only chromosomally normal embryos for transfer...
March 23, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28368015/early-neurotrophic-pharmacotherapy-rescues-developmental-delay-and-alzheimer-s-like-memory-deficits-in-the-ts65dn-mouse-model-of-down-syndrome
#15
Syed Faraz Kazim, Julie Blanchard, Riccardo Bianchi, Khalid Iqbal
Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellectual disability and is associated with a greatly increased risk of early-onset Alzheimer's disease (AD). The Ts65Dn mouse model of DS exhibits several key features of the disease including developmental delay and AD-like cognitive impairment. Accumulating evidence suggests that impairments in early brain development caused by trisomy 21 contribute significantly to memory deficits in adult life in DS. Prenatal genetic testing to diagnose DS in utero, provides the novel opportunity to initiate early pharmacological treatment to target this critical period of brain development...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28342823/evidence-that-increased-kcnj6-gene-dose-is-necessary-for-deficits-in-behavior-and-dentate-gyrus-synaptic-plasticity-in-the-ts65dn-mouse-model-of-down-syndrome
#16
Alexander M Kleschevnikov, Jessica Yu, Jeesun Kim, Larisa V Lysenko, Zheng Zeng, Y Eugene Yu, William C Mobley
Down syndrome (DS), trisomy 21, is caused by increased dose of genes present on human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the dose of individual genes or regulatory sequences on HSA21 is necessary for creating DS-related phenotypes, including cognitive impairment. We focused on a possible role for Kcnj6, the gene encoding Kir3.2 (Girk2) subunits of a G-protein-coupled inwardly-rectifying potassium channel. This gene resides on a segment of mouse Chromosome 16 that is present in one extra copy in the genome of the Ts65Dn mouse, a well-studied genetic model of DS...
March 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28329461/cardiac-function-after-tetralogy-of-fallot-complete-atrioventricular-canal-repair
#17
Elizabeth H Stephens, Jennifer Tingo, Marc Najjar, Betul Yilmaz, Stéphanie Levasseur, Jeffrey D Dayton, Ralph S Mosca, Paul Chai, Jan M Quaegebeur, Emile A Bacha
BACKGROUND: Repair of complete atrioventricular canal (CAVC) with tetralogy of Fallot (TOF) is a challenging operation increasingly being performed as a complete, primary repair in infancy. Previous studies have focused on perioperative outcomes; however, midterm valve function, ventricular function, and residual obstruction have received little attention. METHODS: We retrospectively reviewed 20 patients who underwent CAVC/TOF repair (January 2005 to December 2014)...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28318659/cardiovascular-and-general-health-status-of-adults-with-trisomy-21
#18
Samuel A Hayes, Shelby Kutty, Joshua Thomas, Joyce T Johnson, Anji T Yetman
BACKGROUND: Patients with Trisomy 21 are now living well into adulthood. Little data exists to assist the cardiologist in the care of these patients. We sought to examine the cardiac and general health status of adults with Trisomy 21 undergoing cardiac evaluation. METHODS & RESULTS: A retrospective review of all affected adults >21years followed at 2 tertiary care institutions was performed. Of 193 patients identified, median age was 31 (range 21.1-60.5) years...
March 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28306738/comparative-evaluation-of-the-minimally-invasive-karyotyping-mink-algorithm-for-non-invasive-prenatal-testing
#19
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/28285880/phenotypic-screening-identifies-modulators-of-amyloid-precursor-protein-processing-in-human-stem-cell-models-of-alzheimer-s-disease
#20
Philip W Brownjohn, James Smith, Erik Portelius, Lutgarde Serneels, Hlin Kvartsberg, Bart De Strooper, Kaj Blennow, Henrik Zetterberg, Frederick J Livesey
Human stem cell models have the potential to provide platforms for phenotypic screens to identify candidate treatments and cellular pathways involved in the pathogenesis of neurodegenerative disorders. Amyloid precursor protein (APP) processing and the accumulation of APP-derived amyloid β (Aβ) peptides are key processes in Alzheimer's disease (AD). We designed a phenotypic small-molecule screen to identify modulators of APP processing in trisomy 21/Down syndrome neurons, a complex genetic model of AD. We identified the avermectins, commonly used as anthelmintics, as compounds that increase the relative production of short Aβ peptides at the expense of longer, potentially more toxic peptides...
April 11, 2017: Stem Cell Reports
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