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Total 981256 results found since Jan 2013.

Mature miR-99a Upregulation in the Amniotic Fluid Samples from Female Fetus Down Syndrome Pregnancies: A Pilot Study.
Conclusions: The significant overexpression of miR-99a, but not pri-miR-99a, points towards an alteration of the post-transcriptional mechanisms of hsa-miR-99a maturation and/or stability in the female trisomic milieu, with a potential impact on signaling pathways important for proper development of the heart. PMID: 31703316 [PubMed - in process]
Source: Medicina (Kaunas) - November 6, 2019 Category: Universities & Medical Training Authors: Vizitiu AC, Stambouli D, Pavel AG, Muresan MC, Anastasiu DM, Bejinar C, Alexa A, Marian C, Sirbu IO, Sima L Tags: Medicina (Kaunas) Source Type: research

Illustration of tessellation in Down syndrome.
Conclusions: Mechanical stretching of the choroid could explain the high rate of tessellation in myopes. Other factors must contribute to the higher prevalence of tessellated fundus in children with Down syndrome without myopia. We discuss potentially relevant factors and propose vascular involvement as a contributor to tessellation in our population with Down syndrome. Further studies assessing choroidal vasculature in individuals with Down syndrome are needed to confirm this theory. PMID: 32200669 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - March 25, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Rewards and challenges of parenting a child with Down syndrome: a qualitative study of fathers' perceptions.
Conclusions: Rewards mainly concerned the father-child bond and the loving, happy child. Fathers rarely mentioned financial stressors or their children's negative behaviors. Instead, many fathers reported children's speech problems. Our findings may assist healthcare professionals in providing more beneficial resources and interventions (especially language-related ones) to families with a child with Down syndrome.Implications for rehabilitationConsistent with a positive psychology approach, fathers reported more rewards than challenges in raising a child with Down syndrome.There may be a need for greater involvement of fa...
Source: Disability and Rehabilitation - April 6, 2020 Category: Rehabilitation Authors: Sheldon JP, Oliver M, Yashar BM Tags: Disabil Rehabil Source Type: research

Differences in foot dimensions between children and adolescents with and without Down syndrome
CONCLUSIONS: Children with Down syndrome have shorter, wider feet with greater girth and fifthtoe height measurements relative to children without Down syndrome. These findings have implications for footwear fit and the manufacturing of population-specific footwear.IMPLICATIONS FOR REHABILITATIONFootwear-fitting issues arise as a result of the unique foot shape of children with Down syndrome.There are substantial variations in the foot shape of children with and without Down syndrome.Children with Down syndrome require wider, deeper footwear at a given length to accommodate their foot dimensions.These findings have implica...
Source: Disability and Rehabilitation - March 11, 2021 Category: Rehabilitation Authors: Nirmeen M Hassan Andrew K Buldt Nora Shields Karl B Landorf Hylton B Menz Shannon E Munteanu Source Type: research

Widespread kidney anomalies in children with Down syndrome
ConclusionsChildren with Down syndrome have significantly smaller kidneys than age-matched controls as well as evidence of decreased kidney function. These findings, in addition to well-noted increased kidney and urologic anomalies, highlight the need for universal anatomical and functional assessment of all individuals with Down syndrome.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information
Source: Pediatric Nephrology - February 3, 2022 Category: Urology & Nephrology Source Type: research

Pre-visit concerns: What caregivers hope to address at a specialty clinic for down syndrome
CONCLUSION: The top concerns of caregivers of individuals with Down syndrome fluctuate across the lifespan. Growing multidisciplinary specialty clinics for Down syndrome may use these findings to ensure that caregivers' concerns are addressed and improve patient experience.PMID:35750159 | DOI:10.1016/j.ejmg.2022.104550
Source: European Journal of Medical Genetics - June 24, 2022 Category: Genetics & Stem Cells Authors: Maria Cabrera Kelsey Haugen Kavita Krell Amy Torres Stephanie Santoro Source Type: research

Researchers develop  drug to treat Alzheimer ' s disease in Down syndrome patients
Researchers develop  drug to treat Alzheimer's disease in Down syndrome patients Research on the drug, known as DYR533, was conducted at the the University of Arizona R. Ken Coit College of Pharmacy and BIO5 Institute, in partnership with the Biodesign Institute in Phoenix. Paul Tumarkin Today Tech Launch ArizonaIMG_2774_Edit-web.jpg From left: Christopher Hulme, James Foley and Travis Dunkley. Paul Tumarkin/Tech Launch ArizonaHealthScience and TechnologyCollege of PharmacyCollege of ScienceTech Launch Arizona Media contact(s)Paul Tumarkin Tech Launch Arizonapault@tla.arizona.edu520-626-8770When a baby is bor...
Source: The University of Arizona: Health - November 16, 2022 Category: Universities & Medical Training Authors: mittank Source Type: research

Mom: "Down Syndrome Research, Hope for My Daughter"
This year scientists announced a major breakthrough and a possible gene therapy for Down Syndrome. In cells taken from a person with Downs, they were able to silence the extra 21st chromosome. This may mean a targeted therapy to help fix the health and cognitive problems caused by have that extra bit of genetic material. Reactions were mixed. Some thought that people with Down Syndrome are perfect as God made them and we should do nothing to change them. I understand this reaction very well. We live in a society that kills 90% of people with Down Syndrome before they make it out of the womb. It is entirely natural to want ...
Source: Mary Meets Dolly - October 14, 2013 Category: Geneticists and Genetics Commentators Tags: Genetic Engineering Source Type: blogs

Fetal facial profile markers of Down syndrome in the second and third trimesters of pregnancy
ConclusionsA small MNM angle and a positive FP line can be regarded as novel markers for Down syndrome. The FP line is an easy marker to measure, has a low FPR, does not require knowledge of normal reference values and has the potential to differentiate between Down syndrome and trisomy 18, as, in the latter, the FP line is often negative. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.
Source: Ultrasound in Obstetrics and Gynecology - July 2, 2015 Category: Radiology Authors: F. I. Vos, E. A. P. de Jong‐Pleij, M. Bakker, E. Tromp, K. O. Kagan, C. M. Bilardo Tags: Original Paper Source Type: research

Midwives and information on prenatal testing with focus on Down syndrome
ConclusionIt is important to ensure that midwives in antenatal care have sufficient knowledge to inform expectant parents about the conditions screened for.
Source: Prenatal Diagnosis - August 17, 2015 Category: Perinatology & Neonatology Authors: Ellen Ternby, Charlotta Ingvoldstad, Göran Annerén, Ove Axelsson Tags: Original Article Source Type: research

Antenatal reflex DNA screening for trisomy 18 and trisomy 13 in addition to Downs syndrome
Conclusion Reflex DNA screening for trisomies 18 and 13 can be usefully added to reflex DNA screening for Down’s syndrome.
Source: Journal of Medical Screening - November 3, 2016 Category: Epidemiology Authors: Bestwick, J. P., Wald, N. J. Tags: Original Articles Source Type: research

A quantitative assessment of educational integration of students with Down syndrome in the Netherlands
ConclusionDuring the 1980s and 1990s, clearly more and more children with Down syndrome were in regular education, being supported by the then existing ad hoc regulations aimed at providing extra support in regular education. In the Netherlands, in 2003, these temporary regulations were transformed into structural legislation for children with disabilities. With regard to the mainstreaming of students with Down syndrome, the 2003 legislation has consolidated the situation. However, as percentages in regular education stayed fairly constant after 2000, it has failed to boost the mainstreaming of children with Down syndrome....
Source: Journal of Intellectual Disability Research - June 24, 2013 Category: Disability Authors: G. De Graaf, G. Van Hove, M. Haveman Tags: Original Article Source Type: research

Prevalence of Down syndrome population in the US
A new approach recently was developed for estimating the prevalence of Down syndrome, and it already has been applied in Ireland, The Netherlands, and England/Wales. This approach estimates prevalence using maternal age and Down syndrome risk, along with Down syndrome mortality rates derived from multiple studies. A similar strategy was used to estimate the prevalence of Down syndrome in the US, using estimates of annual births of people with Down syndrome over the past century. The results of this study by Presson et al show that on January 1, 2008, the prevalence of people with Down syndrome was approximately 250 700 wit...
Source: The Journal of Pediatrics - September 26, 2013 Category: Pediatrics Authors: Robert W. Wilmott Tags: The Editors' Perspectives Source Type: research