Teen with Down syndrome climbs Everest

First person with Down syndrome reaches Mount Everest's base camp in March
Source: Health News: CBSNews.com - Category: Consumer Health News Source Type: news

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Objective: The aim of the study was to analyze the long-term outcomes after cochlear implantation in deaf children with Down syndrome (DS) regarding age at the first implantation and refer the results to preoperative radiological findings as well as postoperative auditory and speech performance. Additionally, the influence of the age at implantation and duration of CI use on postoperative hearing and language skills were closely analyzed in children with DS. Study Design: Retrospective analysis. Setting: Referral center (Cochlear Implant Center). Materials and Methods: Nine children with Down syndrome were compa...
Source: Otology and Neurotology - Category: ENT & OMF Tags: COCHLEAR IMPLANTS Source Type: research
ConclusionsHealth-care professionals must be careful to speak in unprejudiced ways throughout the diagnostic process and present both termination and continuation of pregnancy as equally legitimate options. Nevertheless, the couples may still experience doubt and feel vulnerable following their decision to continue the pregnancy.
Source: Sexual and Reproductive Healthcare - Category: Reproduction Medicine Source Type: research
(University of California - San Francisco) In a surprising finding using the standard animal model of Down syndrome (DS), scientists were able to correct the learning and memory deficits associated with the condition -- the leading genetic cause of cognitive disability and the most frequently diagnosed chromosomal disorder in the US -- with drugs that target the body's response to cellular stresses.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
Publication date: 12 November 2019Source: Cell Reports, Volume 29, Issue 7Author(s): Katherine A. Waugh, Paula Araya, Ahwan Pandey, Kimberly R. Jordan, Keith P. Smith, Ross E. Granrath, Santosh Khanal, Eric T. Butcher, Belinda Enriquez Estrada, Angela L. Rachubinski, Jennifer A. McWilliams, Ross Minter, Tiana Dimasi, Kelley L. Colvin, Dmitry Baturin, Andrew T. Pham, Matthew D. Galbraith, Kyle W. Bartsch, Michael E. Yeager, Christopher C. PorterSummaryPeople with Down syndrome (DS; trisomy 21) display a different disease spectrum relative to the general population, including lower rates of solid malignancies and higher inci...
Source: Cell Reports - Category: Cytology Source Type: research
In this study, we found that the integrated stress response (ISR)—a signaling network that maintains proteostasis—was activated in the brains of DS mice and individuals with DS, reprogramming translation. Genetic and pharmacological suppression of the ISR, by inhibiting the ISR-inducing double-stranded RNA–activated protein kinase or boosting the function of the eukaryotic translation initiation factor eIF2-eIF2B complex, reversed the changes in translation and inhibitory synaptic transmission and rescued the synaptic plasticity and long-term memory deficits in DS mice. Thus, the ISR plays a crucial role ...
Source: ScienceNOW - Category: Science Authors: Tags: Cell Biology, Neuroscience r-articles Source Type: news
Source: ScienceNOW - Category: Science Authors: Tags: perspective Source Type: news
In this study, we found that the expressions of DSCR1-1L mRNA and proteins were upregulated by other angiogenic factors, including VEGF-A121, VEGF-E, histamine, PAF, the endothelial cell (EC) growth medium, and the conditional medium obtained from cancer cells, but not by PlGF, bFGF, PDGF, and serotonin. The EC proliferation, migration and elongation induced by histamine and EC growth medium were inhibited by knocking down the mRNA and protein expressions of DSCR1-1L and TEF3. The TEF3 activation was regulated by its interaction with YAP1, and translocation from cytosol to nuclei, but not by increase of protein expression,...
Source: Microvascular Research - Category: Biochemistry Source Type: research
ConclusionsFixation for cervical instability is a critical component of the management of DS. A minority of patients receiving surgery were identified through asymptomatic screening. There was a high complication risk associated with surgery in our study; however, the addition of rigid fixation has lessened the complication rate compared with previous studies.Level of EvidenceLevel IV.
Source: Spine Deformity - Category: Orthopaedics Source Type: research
ConclusionsObtaining a single NUL radiograph is an efficient method for radiographic screening of cervical spine instability. Further evaluation may be required if abnormal measurements are identified on the NUL radiograph. We also propose new “normal” values for the common radiographic measurements used in assessing risk of cervical spine instability in patients with Down syndrome.Level of EvidenceLevel IV.
Source: Spine Deformity - Category: Orthopaedics Source Type: research
pirat Chaikuad Conrad Kunick Since hyperactivity of the protein kinase DYRK1A is linked to several neurodegenerative disorders, DYRK1A inhibitors have been suggested as potential therapeutics for Down syndrome and Alzheimer’s disease. Most published inhibitors to date suffer from low selectivity against related kinases or from unfavorable physicochemical properties. In order to identify DYRK1A inhibitors with improved properties, a series of new chemicals based on [b]-annulated halogenated indoles were designed, synthesized, and evaluated for biological activity. Analysis of crystal structures revealed a ty...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
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