Down Syndrome - Pathology
Research News and Information

Monday, November 23, 2009

Marathon of eponyms: 4 Down syndrome.

30 Aug 2009 The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in Diseases of the head and neck is mainly in specialties dealing with medically ... Read more...

Down syndrome critical region 1 enhances the proteolytic cleavage of calcineurin.

29 Jul 2009 Down syndrome critical region 1 (DSCR1), an oxidative stress-response gene, interacts with calcineurin and represses its phosphatase activity. Recently it was shown that hydrogen peroxide inactivates calcineurin by proteolytic cleavage. Based on ... Read more...

Increased lipid peroxidation in Down's syndrome mouse models.

21 Jul 2009 Elevated oxidative stress has been suggested to be associated with the features of Down's syndrome (DS). We previously reported increased oxidative stress in cultured cells from the embryonic brain of Ts1Cje, a mouse genetic DS model. However, since ... Read more...

Latest indexed articles for 'Down Syndrome - Pathology'

These are the very latest articles for this heading:

• Marathon of eponyms: 4 Down syndrome. 30 Aug 2009
• Down syndrome: the crucible for treating genomic imbalance. 30 Aug 2009
• Urocortin in amniotic fluid and Down syndrome. 30 Jul 2009
• Down syndrome critical region 1 enhances the proteolytic cleavage of calcineurin. 29 Jul 2009
• Increased lipid peroxidation in Down's syndrome mouse models. 21 Jul 2009
• Mosaic trisomy 21/monosomy 21 in a living female infant. 12 Jul 2009
• Age-dependent dysregulation of brain amyloid precursor protein in the Ts65Dn Down syndrome mouse model. 8 Jul 2009
• Dystrophic (senescent) rather than activated microglial cells are associated with tau pathology and likely precede neurodegeneration in Alzheimer's disease. 8 Jun 2009
• [Protection of radiosensitive human cells against the action of heavy metals by antimutagens and adapting factors: association with genetic and protein polymorphisms] 30 May 2009
• The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome. 4 May 2009
• A fibril-specific, conformation-dependent antibody recognizes a subset of Abeta plaques in Alzheimer disease, Down syndrome and Tg2576 transgenic mouse brain. 8 Apr 2009
• Widespread impairment of cell proliferation in the neonate Ts65Dn mouse, a model for Down syndrome. 30 Mar 2009
• [Thoughts about screening for Down syndrome] 13 Mar 2009
• AgNOR status in Down's syndrome infants and a plausible phenotype formation hypothesis. 11 Mar 2009
• Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child. 27 Feb 2009
• The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues. 13 Feb 2009
• A systems biology approach to Down syndrome: identification of Notch/Wnt dysregulation in a model of stem cells aging. 4 Feb 2009
• Quantitative study of placental villi in trisomy by analytical morphometry. 30 Jan 2009
• Vestibular pathology presenting as behavioral problems in a child with Down Syndrome: a case report. 30 Jan 2009
• Excitatory-inhibitory relationship in the fascia dentata in the Ts65Dn mouse model of Down syndrome. 30 Jan 2009

See a longer list of these articles.

Technical information about 'Down Syndrome'

Definition: 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 MENTAL RETARDATION. 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 UI: D004314

Alternative terms: Down Syndrome; Syndrome, Down; Mongolism; Trisomy 21; Down's Syndrome; Downs Syndrome; Syndrome, Down's; Trisomy 21, Meiotic Nondisjunction; Trisomy 21, Mitotic Nondisjunction; Down Syndrome, Partial Trisomy 21; Partial Trisomy 21 Down Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.606.643.220; C16.131.077.327; C16.131.260.260; C16.320.180.260;

Online Note: use DOWN SYNDROME to search DOWN'S SYNDROME 1975-92 & MONGOLISM 1966-74

History Note: 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74