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21 Down Syndrome Trisomy - Crossref

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Last Updated: 05 May 2022

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Quantitative analysis of senile plaques in Alzheimer disease: observation of log-normal size distribution and molecular epidemiology of differences associated with apolipoprotein E genotype and trisomy 21 (Down syndrome).

The finding that the epsilon 4 allele of the apolipoprotein E gene in the general population is a putative risk factor for Alzheimer disease has highlighted the role of genetic factors in this common and disabling disorder. We used computerized image analysis to determine the size distribution of one of AD's most characteristic neuropathologic lesions, deposits of A beta peptide in senile plaques. We find that a log-normal distribution matches the SP size distribution quite well, encouraging a porous model of SP morphogenesis. We then analyzed SP size distribution curves in genotypically defined subgroups of AD patients. The size distribution in apoE epsilon 4/AD remains unchanged, but the number of SPs is increasing relative to apoE epsilon 3, indicating an elevated risk of SP initiation. These results show that subgroups of AD patients identified on the basis of molecular characteristics have quantitatively different neuropathological phenotypes.

Source link: https://doi.org/10.1073/pnas.92.8.3586


Chromosomal protein HMG-14 gene maps to the Down syndrome region of human chromosome 21 and is overexpressed in mouse trisomy 16.

HMG-14, a gene for human high-mobility-group chromosomal protein, is found in region 21q22. 3, which is associated with Down syndrome's pathogenesis, one of the most common human birth abnormalities. Mouse trisomy 16 embryos have approximately 1. 5 times more HMG-14 mRNA and protein than their normal littermates, indicating a direct gene mutation effect. The HMG-14 gene may be a new indicator of Down syndrome.

Source link: https://doi.org/10.1073/pnas.87.10.3836


COVID-19 Vaccination of Individuals with Down Syndrome—Data from the Trisomy 21 Research Society Survey on Safety, Efficacy, and Factors Associated with the Decision to Be Vaccinated

Individuals with Down syndrome are one of the most susceptible to severe COVID-19 among the population. Vaccination could be boosted by a better understanding of the effectiveness and risks of COVID-19 vaccines for people with DS can improve uptake of vaccination. The T21RS COVID-19 Initiative initiated an international survey to collect data on the safety and effectiveness of COVID-19 vaccines for people with DS. FULL vaccinated individuals with DS have been found to be safe for people with DS and extremely effective in terms of resulting in minimal breakthrough infections and milder disease incidence in partially vaccinated individuals with DS.

Source link: https://doi.org/10.3390/vaccines10040530


Morphology of dentition in Polish children with trisomy 21 (Down syndrome)

This paper compares the physical and non-metric dental characteristics of Down syndrome patients and a control group in Polish children with trisomy 21. A total of 1,210 teeth of patients with Down syndrome were evaluated. Down syndrome patients were observed more often than maxillary tooth alignment and the faint shoveling of upper central incisors, but descriptive characteristics correlating with dental crown size were more common.

Source link: https://doi.org/10.2478/v10044-010-0001-4


Modeling Down Syndrome Myeloid Leukemia by Sequential Introduction of GATA1 and STAG2 Mutations in Induced Pluripotent Stem Cells with Trisomy 21

Children with Down syndrome are at a risk for acute myeloid leukemia. We previously developed a model for TAM by introducing disease-specific GATA1 mutations in trisomy 21-induced pluripotent stem cells, which resulted in the production of a N-terminally truncated short form of GATA1. Differentiation of GATA1 STAG1 and the absence of functional STAG2 protein have been confirmed by GATA1's expression and the absence of functional STAG2 protein, leading to increased production of immature megakaryocytic populations relative to the GATA1 mutant alone. GATA1 mutations resulted in downregulation of megakaryocytic and erythrocytic differentiation pathways and interferon / signaling, as well as the restriction of pathways encouraging myeloid differentiation such as toll-like receptor cascade. The co-occurrence of STAG2 knockout partially reversed gene expression of myeloid differentiation, most likely leading to increased self-renewal and leukemogenesis.

Source link: https://doi.org/10.3390/cells11040628


Symptomatic Atlantoaxial Instability in an Adolescent with Trisomy 21 (Down’s syndrome)

In 15% of children with Trisomy 21 and Trasomy 21, Atlantoaxial dysfunction occurs. The American Academy of Pediatrics updated health surveillance policies in 2011 to reflect changes in medicine for children with special health care needs. Previous studies used cervical spine radiological tests in preschool years to determine for atlantoaxial instability. It also addresses the need for a medical home for CSHCN, with health care professionals knowing the child's baseline health status.

Source link: https://doi.org/10.1177/0009922813482178


Knowledge and Awareness Regarding Trisomy 21 among Parents of School Going Down Syndromes in Islamabad and Rawalpindi: a Descriptive Cross-Sectional Study

Not many people are aware of facts relating to down syndromes. Aim: To determine the level of awareness and education among parents of school going down syndrome. Methodology: From February 2021 to March 2021, a descriptive cross-sectional survey was conducted in special children's schools in Islamabad and Rawalpindi, from February 2021 to March 2021, giving the questionnaire anonymity. The results: The questionnaire assessing physical characteristics of a child with Down syndrome revealed that the majority of the people were aware of facial profile and nose. People who were interested in learning about small head, ears, and nose were among the 69% who expressed optimism about their knowledge of small head, ears, and nose. Down's children had long tongues, according to 88. 6 who told them that the children had long tongues. 88 percent of people are aware of muscle tone loss. 55% admitted to poor memory, while 93. 2% said they are slow learners.

Source link: https://doi.org/10.53350/pjmhs22161403


Accelerated biological aging in people with Down syndrome with full and segmental trisomy 21 begins in childhood as revealed by immunoglobulin G glycosylation

Abstract cells from people with Down syndrome have accelerated DNA damage development and epigenetic aging marks. Plasma immunoglobulin G glycosylation profiles have been used as a reliable predictor of biological and chronological age. We undertook IgG glycan profiling of n=246 individuals with DS from three European populations and compared these to age-, sex-, and demography-matched general populations. We discovered a significant rise in IgG glycosylation aging signs related to DS. Average concentrations of IgG glycans without galactose and those with two galactoses were similar to those found in 19 years older euploid people. In children with DS, several aging signs were evident already. The IgG glycan profiles of a child with segmental duplication of only 31 genes on chromosome 21 were similar to those of age-matched DS children, which were outside of the normal range.

Source link: https://doi.org/10.21203/rs.3.rs-1128079/v1


Analysis of the intracellular traffic of IgG in the context of Down syndrome (trisomy 21)

People with Down syndrome have a widespread cellular protein trafficking disorder. A trend toward decreased IgG recycling in comparison to diploid cells was shown by fibroblasts with trisomy 21 in lysosomes, reduced IgG content in intracellular vesicles, and a trend toward decreased IgG trafficking in comparison to diploid cells in comparison to diploid cells. The rise in IgG sorting to the degradative pathway seen in cells with trisomy 21 was replicated in diploid fibroblasts by Amyloid-beta precursor protein overexpression. App knockdown and overexpression of the APP protein were both investigated into the effect of APP on the expression of FCGRT. In both diploid and trisomic cells, the expression of FCGRT mRNA increased by 60% but not up by 60%. The overexpression of APP in diploid fibroblasts and HepG2 cells resulted in a decrease in FCGRT and FcRn expression.

Source link: https://doi.org/10.1101/2020.12.15.422747

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions