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Down Syndrome - Physiopathology
Research News and Information
Definition of 'Down Syndrome'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) |
Sunday, November 22, 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...
Six-minute walk test in patients with Down syndrome: validity and reproducibility.
30 Jul 2009 OBJECTIVES: To examine the validity of the six-minute walk test (6MWT) as a tool to evaluate functional exercise performance in patients with Down syndrome (DS). DESIGN: Comparison of the six-minute walk distance (6MWD) in 2 distinct groups of DS ... Read more...
27 Jul 2009 OBJECTIVE: We tested the hypothesis that inter-hemispheric directional functional coupling of eyes-closed resting EEG rhythms is abnormal in adolescents with Down syndrome (DS). METHODS: Eyes-closed resting EEG data were recorded in 38 DS ... Read more...
Latest indexed articles for 'Down Syndrome - Physiopathology'
These are the very latest articles for this heading:
- Marathon of eponyms: 4 Down syndrome. 30 Aug 2009
- Surgical management of otitis media with effusion in children--NICE guideline: what paediatricians need to know.
30 Jul 2009 - Six-minute walk test in patients with Down syndrome: validity and reproducibility. 30 Jul 2009
- Inter-hemispheric functional coupling of eyes-closed resting EEG rhythms in adolescents with Down syndrome. 27 Jul 2009
- Increased lipid peroxidation in Down's syndrome mouse models. 21 Jul 2009
- WITHDRAWN: Aerobic exercise training programmes for improving physical and psychosocial health in adults with Down syndrome. 6 Jul 2009
- Acute massive cerebral infarctions treated with hemodialysis. 29 Jun 2009
- Aneuploidy: from a physiological mechanism of variance to Down syndrome. 29 Jun 2009
- Children with intellectual disabilities and pain perception: a review and suggestions for future assessment protocols. 30 May 2009
- Endocrine and musculoskeletal abnormalities in patients with Down syndrome. 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
- Patients with pulmonary hypertension related to congenital systemic-to-pulmonary shunts are characterized by inflammation involving endothelial cell activation and platelet-mediated inflammation. 29 Apr 2009
- Infantile spasms and Down syndrome: a new animal model. 29 Apr 2009
- Hashimoto encephalopathy and Down syndrome. 29 Apr 2009
- Normal protein composition of synapses in Ts65Dn mice: a mouse model of Down syndrome. 20 Apr 2009
- Down syndrome--recent progress and future prospects.
13 Apr 2009 - Clinical and EEG features of epilepsy in children and adolescents in Down syndrome. 30 Mar 2009
- Postural stability of athletes in Special Olympics. 30 Mar 2009
- Bifocals in Down Syndrome Study (BiDS): design and baseline visual function. 27 Feb 2009
- Reaching and grasping movements in infants at risk: a review. 21 Feb 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