The Downs Syndrome

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What is Downs Syndrome?
Downs Syndrome (DS) is the leading form of intellectual and chromosomal deformity (Sherman et al., 2007), affecting approximately 1 in every 700 babies born each year (Parker et al. 2010). The main physiological aspect and cause of DS is the trisomy of chromosome 21 in which the usual paired chromosome becomes a trio (Patterson, 2009). DS also has a clear clinical presentation from birth with a number of distinct symptoms such as (percentages represent number of DS individuals with respective feature.): Slanted eyes (90%), Enlarged tongue (75%) and Brachycephaly/flattened back of skull (100%) (Domino, 2007). DS also has a significant number of related conditions thought to be associated with the chromosomal deformity.
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Firstly, over expression of AIRE, CHRNA1 and Insulin was found in the (DS) thymic tissue. Expression of AIRE had the highest p value of 0.0079, a statistically significant result against the control. A p value of 0.056 for expression of Insulin and CHRNA1 was also determine against the control meaning the result is statistically insignificant. Positive correlations were also found between; AIRE/Insulin and AIRE/CHRNA1.

The next section of the results looks at the thymic medullary structural and cell differences in those with DS compared to the control group. Firstly, an increase in the number of AIRE+ cells per square millimetre was found in those samples from DS thymus compared to the control sample. This increase is represented as a statistically significant p value of 0.0084. A similar result was found when looking at the number of CD11+ found in the DS medulla with a p value of 0.022 being calculated. Another finding in the structural difference of the thymic medulla in DS is the enlargement of the Hassall’s Corpuscules. When staining this area, Skogberg et al. noted a significantly increased stained areas for INVOLUCRIN (IVL), a human antibody added to all sections of tissue, compared to the control samples. Skogberg et al. also noted a slight presence of IVL in other areas than the Hassall’s Corpuscules in DS sections. However, this was only present in the DS samples, the control sections displayed complete

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