Down Syndrome
"Down Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Descriptor ID |
D004314
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MeSH Number(s) |
C10.597.606.643.220 C16.131.077.327 C16.131.260.260 C16.320.180.260
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Concept/Terms |
Down Syndrome- Down Syndrome
- Syndrome, Down
- Mongolism
- Trisomy 21
- 47,XX,+21
- 47,XY,+21
- Down's Syndrome
- Downs Syndrome
- Syndrome, Down's
- Trisomy G
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Below are MeSH descriptors whose meaning is more general than "Down Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Down Syndrome".
This graph shows the total number of publications written about "Down Syndrome" by people in this website by year, and whether "Down Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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1991 | 2 | 2 | 4 | 1992 | 0 | 1 | 1 | 1993 | 0 | 1 | 1 | 1994 | 0 | 1 | 1 | 1995 | 0 | 1 | 1 | 1996 | 3 | 1 | 4 | 1997 | 0 | 1 | 1 | 1999 | 1 | 0 | 1 | 2000 | 1 | 0 | 1 | 2001 | 1 | 0 | 1 | 2002 | 3 | 0 | 3 | 2003 | 1 | 0 | 1 | 2004 | 2 | 0 | 2 | 2006 | 2 | 0 | 2 | 2007 | 2 | 1 | 3 | 2008 | 2 | 0 | 2 | 2009 | 2 | 0 | 2 | 2010 | 7 | 0 | 7 | 2011 | 4 | 1 | 5 | 2012 | 9 | 0 | 9 | 2013 | 9 | 3 | 12 | 2014 | 5 | 0 | 5 | 2015 | 5 | 3 | 8 | 2016 | 8 | 1 | 9 | 2017 | 16 | 0 | 16 | 2018 | 9 | 0 | 9 | 2019 | 9 | 1 | 10 | 2020 | 3 | 0 | 3 |
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Below are the most recent publications written about "Down Syndrome" by people in Profiles.
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Vita S, Di Bari V, Corpolongo A, Goletti D, Espinosa J, Petracca S, Palmieri F, Nicastri E. Down Syndrome patients with COVID-19 pneumonia: A high-risk category for unfavourable outcome. Int J Infect Dis. 2021 Feb; 103:607-610.
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Tuttle KD, Waugh KA, Araya P, Minter R, Orlicky DJ, Ludwig M, Andrysik Z, Burchill MA, Tamburini BAJ, Sempeck C, Smith K, Granrath R, Tracy D, Baxter J, Espinosa JM, Sullivan KD. JAK1 Inhibition Blocks Lethal Immune Hypersensitivity in a Mouse Model of Down Syndrome. Cell Rep. 2020 11 17; 33(7):108407.
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Deigendesch N, Hirsiger JR, Bigler MB, Ghosh A, Harder D, Jauch A, Espinosa JM, Recher M, Navarini A, Daikeler T, Berger CT. Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling. Rheumatology (Oxford). 2020 11 01; 59(11):e102-e104.
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Aivazidis S, Jain A, Rauniyar AK, Anderson CC, Marentette JO, Orlicky DJ, Fritz KS, Harris PS, Siegel D, Maclean KN, Roede JR. SNARE proteins rescue impaired autophagic flux in Down syndrome. PLoS One. 2019; 14(11):e0223254.
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Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 11 12; 29(7):1893-1908.e4.
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Araya P, Waugh KA, Sullivan KD, Núñez NG, Roselli E, Smith KP, Granrath RE, Rachubinski AL, Enriquez Estrada B, Butcher ET, Minter R, Tuttle KD, Bruno TC, Maccioni M, Espinosa JM. Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity. Proc Natl Acad Sci U S A. 2019 11 26; 116(48):24231-24241.
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Powers RK, Culp-Hill R, Ludwig MP, Smith KP, Waugh KA, Minter R, Tuttle KD, Lewis HC, Rachubinski AL, Granrath RE, Carmona-Iragui M, Wilkerson RB, Kahn DE, Joshi M, Lleó A, Blesa R, Fortea J, D'Alessandro A, Costello JC, Sullivan KD, Espinosa JM. Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors. Nat Commun. 2019 10 18; 10(1):4766.
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Jackson A, Maybee J, Wolter-Warmerdam K, DeBoer E, Hickey F. Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome. Pediatr Pulmonol. 2019 11; 54(11):1853-1859.
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Ross S, Eisenman K, Maloney KW. Successful Use of EPOCH-R in 2 Young Adult Patients With Burkitt Lymphoma and Acute Kidney Injury: A Case Report. J Pediatr Hematol Oncol. 2019 08; 41(6):498-500.
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de Smith AJ, Walsh KM, Morimoto LM, Francis SS, Hansen HM, Jeon S, Gonseth S, Chen M, Sun H, Luna-Fineman S, Antillón F, Girón V, Kang AY, Smirnov I, Shao X, Whitehead TP, Barcellos LF, Jolly KW, Healy J, Laverdière C, Sinnett D, Taub JW, Birch JM, Thompson PD, Pombo-de-Oliveira MS, Spector LG, DeWan AT, Mueller BA, Chiang C, Metayer C, Ma X, Wiemels JL. Heritable variation at the chromosome 21 gene ERG is associated with acute lymphoblastic leukemia risk in children with and without Down syndrome. Leukemia. 2019 11; 33(11):2746-2751.
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