Wiki Number: W069
Diagnosis: Down Syndrome
US Patients: 1 in 1000 babies
World Patients: 5 Mil
Age Onset: Ave IQ-50
Brain Area: Also know as Trisomy 21 due to a third set of genes.
Symptoms: Ages 8-9 maximum mental development.
Progression: probability of a Down-born child increases with the age of the parents.
Causes: 3rd copy of Chromosome 21
Medications: None listed.
Therapies: Support and education
4 CURRENT ARTICLES
The world-wide medical research
reports chosen for each diagnosis
Clicking each title opens the
PubMed article’s summary-abstract.
- High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell lineby Chih-Ping Chen on July 2, 2022
CONCLUSION: High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line.
- CASP-Model Sepsis Triggers Systemic Innate Immune Responses Revealed by the Systems-Level Signaling Pathwaysby Hannan Ai on July 1, 2022
Colon ascendens stent peritonitis (CASP) surgery induces a leakage of intestinal contents which may cause polymicrobial sepsis related to post-operative failure of remote multi-organs (including kidney, liver, lung and heart) and possible death from systemic syndromes. Mechanisms underlying such phenomena remain unclear. This article aims to elucidate the mechanisms underlying the CASP-model sepsis by analyzing real-world GEO data (GSE24327_A, B and C) generated from mice spleen 12 hours after a...
- Management of chronic musculoskeletal pain in an adult with Down syndrome using a modified pain neuroscience approach: a case reportby Maria Osborne on July 1, 2022
BACKGROUND: The use of pain neuroscience education (PNE) in the management of chronic musculoskeletal pain is well documented in the literature for the adult population. However, the use of this component within the larger biopsychosocial approach has not been examined in adults with intellectual disabilities. The purpose of this case report is to describe the utilization of a PNE approach combined with exercise in the physical therapy management of chronic musculoskeletal pain in an adult with...
- Potassium channel Kir 4.1 regulates oligodendrocyte differentiation via intracellular pH regulationby Na Wang on July 1, 2022
In humans, loss-of-function mutations of Kcnj10 in SeSAME/EAST syndrome, which encodes the inwardly rectifying K^(+) channel 4.1 (K(ir) 4.1), causes progressive neurological decline. Despite its rich expression in oligodendrocyte (OL) lineage cells and an emerging link with demyelinating disease, the function of K(ir) 4.1 in OLs is unclear. Here we show a novel role of K(ir) 4.1 in OL development. K(ir) 4.1 expression is markedly greater in OLs than in OL precursor cells (OPCs), and the...