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Trisomy 21

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https://www.readbyqxmd.com/read/28336394/ts1cje-down-syndrome-model-mice-exhibit-environmental-stimuli-triggered-locomotor-hyperactivity-and-sociability-concurrent-with-increased-flux-through-central-dopamine-and-serotonin-metabolism
#1
Atsushi Shimohata, Keiichi Ishihara, Satoko Hattori, Hiroyuki Miyamoto, Hiromasa Morishita, Guy Ornthanalai, Matthieu Raveau, Abdul Shukkur Ebrahim, Kenji Amano, Kazuyuki Yamada, Haruhiko Sago, Satoshi Akiba, Nobuko Mataga, Niall P Murphy, Tsuyoshi Miyakawa, Kazuhiro Yamakawa
Ts1Cje mice have a segmental trisomy of chromosome 16 that is orthologous to human chromosome 21 and display Down syndrome-like cognitive impairments. Despite the occurrence of affective and emotional impairments in patients with Down syndrome, these parameters are poorly documented in Down syndrome mouse models, including Ts1Cje mice. Here, we conducted comprehensive behavioral analyses, including anxiety-, sociability-, and depression-related tasks, and biochemical analyses of monoamines and their metabolites in Ts1Cje mice...
March 20, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28329461/cardiac-function-after-tetralogy-of-fallot-complete-atrioventricular-canal-repair
#2
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
#3
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
#4
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/28289920/the-early-presentation-of-dementia-in-people-with-down-syndrome-a-systematic-review-of-longitudinal-studies
#5
REVIEW
Bianca Alexandra Lautarescu, Anthony John Holland, Shahid H Zaman
Adults with Down syndrome (DS) are at a very high risk of developing early onset Alzheimer's disease (AD) due to trisomy of chromosome 21. AD is preceded by a prolonged prodromal "pre-clinical" phase presenting with clinical features that do not fulfil the diagnostic criteria for AD. It is important to clinically characterise this prodromal stage to help early detection of the disease as neuropathology of AD is almost universal by the fifth decade in DS. There is a lack of knowledge of the trajectory of decline associated with the onset of dementia in this population and early signs may be overlooked or misdiagnosed, negatively affecting the quality of life of those affected and the use of early pharmacological or psychosocial interventions...
March 13, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28285880/phenotypic-screening-identifies-modulators-of-amyloid-precursor-protein-processing-in-human-stem-cell-models-of-alzheimer-s-disease
#6
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...
March 6, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28281554/additional-structural-chromosomal-aberrations-are-associated-with-inferior-clinical-outcome-in-patients-with-hyperdiploid-multiple-myeloma-a-single-institution-experience
#7
Adrian A Carballo-Zarate, L Jeffrey Medeiros, Lianghua Fang, Jatin J Shah, Donna M Weber, Sheeba K Thomas, Elisabet E Manasanch, Suyang Hao, Qi Shen, Robert Z Orlowski, Pei Lin, Xinyan Lu
Multiple myeloma is cytogenetically heterogeneous and a hyperdiploid karyotype is considered currently to have standard risk. In this study, we investigated the clinical impact of additional-structural-chromosomal aberrations assessed by chromosome analysis in 284 patients with a hyperdiploid karyotype that were subdivided into four groups based on the complexity of additional-structural-chromosomal aberrations: group 1, no additional-structural-chromosomal aberrations (n=35); group 2, one additional-structural-chromosomal aberration (n=46); group 3, two additional-structural-chromosomal aberrations (n=39); group 4, ≥three additional-structural-chromosomal aberrations (n=164)...
March 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28280050/single-stranded-dna-library-preparation-preferentially-enriches-short-maternal-dna-in-maternal-plasma
#8
Joaquim S L Vong, Jason C H Tsang, Peiyong Jiang, Wing-Shan Lee, Tak Yeung Leung, K C Allen Chan, Rossa W K Chiu, Y M Dennis Lo
BACKGROUND: Recent studies have suggested that single-stranded DNA (ssDNA) library preparation can enrich short DNA species from the plasma of healthy individuals, cancer patients, and transplant recipients. Based on previous observations that fetal DNA molecules in the maternal plasma are shorter than maternal DNA molecules, ssDNA library preparation may potentially enrich fetal DNA and provide substantial improvement in noninvasive prenatal testing. METHODS: We tested this hypothesis by comparing the maternal plasma DNA sequencing results using 2 types of ssDNA library preparation methods and a standard double-stranded DNA (dsDNA) library method using samples from first- and third-trimester pregnancies...
March 9, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28278526/-acute-kidney-failure-due-to-urachal-cyst
#9
I Klaassen, M Wolf, M J Kemper, S Riechardt, M Boettcher, J Herrmann, D Singer
A 34-year-old para V woman was referred to our centre at 35+1 weeks of gestation for an assumed fetal malformation with prenatal renal impairment and anhydramnios. Prenatal ultrasound demonstrated unilateral renal agenesis; the bladder was not detectable. The baby was born by caesarian section at 36+2 weeks of gestation because of placental insufficiency. Postnatal adaptation was uneventful, but the newborn presented external stigmas of trisomy 21 and progressive renal impairment with anuria. Nevertheless, the postnatal ultrasound showed two enlarged kidneys in loco typico with impaired perfusion but without signs of malformations...
March 9, 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28272653/we-can-diagnose-it-if-we-consider-it-diagnostic-pitfall-for-placenta-placental-mesenchymal-dysplasia
#10
Havva Serap Toru, Esra Çobankent Aytekin, Cem Yaşar Sanhal, Sezin Yakut, Zafer Çetin, İbrahim İnanç Mendilcioğlu, Hadice Elif Peştereli
Placental mesenchymal dysplasia is an increasingly recognizable abnormality. Early cases have been confused with partial hydatidiform mole. Placental mesenchymal dysplasia is probably under-diagnosed because of being an unfamiliar clinical entity and also mistaken for gestational trophoblastic disease due to the similar sonographic findings of two entities. In this report, we describe the clinical, gross, and histopathological findings of placental mesenchymal dysplasia in two cases. The 33-week-preterm baby of a 26-year-old woman with cardiovascular disease and 342 gram placenta and the 19-week fetus with trisomy 21 of a 40 year-old woman were terminated...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28266009/a-detailed-musculoskeletal-study-of-a-fetus-with-anencephaly-and-spina-bifida-craniorachischisis-and-comparison-with-other-cases-of-human-congenital-malformations
#11
Malak A Alghamdi, Janine M Ziermann, Lydia Gregg, Rui Diogo
Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects...
March 7, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28258854/-analysis-of-prenatal-follow-up-strategies-for-trisomy-21-affected-pregnancies-in-france
#12
J-M Dupont, B Simon-Bouy, A Zebina, F Pessione, D Royère, M Doco-Fenzy
OBJECTIVE: The main objective of this study was to screen the prenatal follow-up of women with live birth trisomy 21 child in order to evaluate the proportion of prenatal screening failure versus cases where the women refused either the screening or the prenatal diagnosis of Down syndrome. This study covers the period of time from 2009 to 2012 when the national prenatal screening policy changed from second to first trimester and allows for a comparative assessment of the nationwide efficiency of the various maternal serum marker based strategies...
February 28, 2017: Gynecol Obstet Fertil Senol
https://www.readbyqxmd.com/read/28250274/neprilysin-is-suppressed-by-dual-specificity-tyrosine-phosphorylation-regulated-kinase-1a-dyrk1a-in-down-syndrome-derived-fibroblasts
#13
Takashi Kawakubo, Ryotaro Mori, Keiro Shirotani, Nobuhisa Iwata, Masashi Asai
Amyloid-β peptide (Aβ) accumulation is a triggering event leading to the Alzheimer's disease (AD) pathological cascade. Almost all familial AD-linked gene mutations increase Aβ production and accelerate the onset of AD. The Swedish mutation of amyloid precursor protein (APP) affects β-secretase activity and increases Aβ production up to ca. 6-fold in cultured cells; the onset age is around 50. Down syndrome (DS) patients with chromosome 21 trisomy present AD-like pathologies at earlier ages (40s) compared with sporadic AD patients, because APP gene expression is 1...
2017: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28248967/improving-the-positive-predictive-value-of-non-invasive-prenatal-screening-nips
#14
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation. GC sequencing bias correction and statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. Maternal plasma samples from pregnancies with known aneuploidy status were used for assay development, verification, and validation. Assay verification studies using 2,085 known samples (1873 unaffected, 69 trisomy 21, 20 trisomy 18, 17 trisomy 13) demonstrated complete discrimination between autosomal trisomy (Z scores >8) and unaffected (Z scores <4) singleton pregnancies...
2017: PloS One
https://www.readbyqxmd.com/read/28243732/decreased-endothelial-progenitor-cells-epcs-and-increased-natural-killer-nk-cells-in-peripheral-blood-as-possible-early-markers-of-preeclampsia-a-case-control-analysis
#15
Antonio Simone Laganà, Domenico Giordano, Saverio Loddo, Giuseppe Zoccali, Salvatore Giovanni Vitale, Angelo Santamaria, Michele Buemi, Rosario D'Anna
PURPOSE: Endothelial Progenitor Cells (EPCs) and Natural Killer (NK) cells were recently advocates in the pathogenesis of preeclampsia (PE), since they can be mobilized into the bloodstream and may orchestrate vascular endothelium function. The aim of our study was to evaluate in early pregnancy circulating EPCs and NK cells in peripheral blood in women who later developed PE compared to uncomplicated pregnancies. METHODS: We prospectively enrolled pregnant women at 9(+0)-11(+6) weeks of gestation at the time of first-trimester integrated screening for trisomy 21, who underwent peripheral venous blood (20 mL) sample...
February 28, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28242979/radioactive-iodine-131-as-a-definitive-treatment-in-rare-association-of-down-syndrome-with-hyperthyroidism-a-case-report-and-review-of-literature
#16
Shoukat H Khan, Aditya Mahajan, Tanveer A Rather
Down syndrome characterized by trisomy of chromosome 21 is frequently associated with thyroid dysfunctions due to underlying autoimmune disorders. Hypothyroidism is the commonest thyroid dysfunction and hyperthyroidism, usually Graves' disease, is far less common. On literature review, we came across approximately 112 cases reported so far with the first such case report in 1946. The published data from India on hyperthyroidism in Down syndrome is of three case reports. We report one such patient, an adult male of 28 years who was administered Iodine-131 as a definitive treatment after 9-10 years of initial diagnosis...
January 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28237536/early-experience-of-macitentan-for-pulmonary-arterial-hypertension-in-adult-congenital-heart-disease
#17
S Herbert, W Gin-Sing, L Howard, R M R Tulloh
BACKGROUND: Endothelin receptor antagonists (ERA) have been recognised as effective therapy for pulmonary arterial hypertension in congenital heart disease (CHD-PH), and Eisenmenger syndrome (ES) since the Breathe 5 study. A new dual receptor antagonist - Macitentan - is currently undergoing trials to determine its efficacy in simple ES. To date there is little information on this therapy in CHD and we report our first experience, some with more complex diseases. METHODS: Data was collected prospectively from September 2014...
February 6, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28236314/non-visualization-of-choroid-plexus-of-the-fourth-ventricle-as-a-first-trimester-predictor-of-posterior-fossa-anomalies-and-chromosomal-defects-a-three-dimensional-ultrasound-study
#18
P Martinez-Ten, T Illescas, B Adiego, M Estevez, C Bermejo, A E Wong, W Sepulveda
OBJECTIVE: To assess non-visualization of the choroid plexus of the fourth ventricle (CP-IVV) as a simple, qualitative, and reproducible first-trimester ultrasound feature of the posterior fossa that predicts brain anomalies and chromosomal defects. METHODS: Three-dimensional (3D) ultrasound datasets of the fetal brain were prospectively obtained from 65 consecutive singleton, normal first-trimester fetuses and retrospectively from 27 fetuses identified as having an abnormal fetal posterior fossa on the first-trimester scan, which were randomly included in the final study group...
February 25, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28231076/congenital-vascular-malformations-of-the-liver-an-association-with-trisomy-21
#19
Mark Davenport
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28231075/congenital-vascular-malformations-are-associated-with-trisomy-21
#20
Henrik Arnell, Björn Fischler
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
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