keyword
MENU ▼
Read by QxMD icon Read
search

Down's syndrome

keyword
https://www.readbyqxmd.com/read/28431488/core-vocabulary-of-young-children-with-down-syndrome
#1
Stijn R J M Deckers, Yvonne Van Zaalen, Hans Van Balkom, Ludo Verhoeven
The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions)...
June 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28430800/the-burden-of-trisomy-21-disrupts-the-proteostasis-network-in-down-syndrome
#2
Stefanos Aivazidis, Christina M Coughlan, Abhishek K Rauniyar, Hua Jiang, L Alexander Liggett, Kenneth N Maclean, James R Roede
Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. Abnormalities in chromosome number have the potential to lead to disruption of the proteostasis network (PN) and accumulation of misfolded proteins. DS individuals suffer from several comorbidities, and we hypothesized that disruption of proteostasis could contribute to the observed pathology and decreased cell viability in DS. Our results confirm the presence of a disrupted PN in DS, as several of its elements, including the unfolded protein response, chaperone system, and proteasomal degradation exhibited significant alterations compared to euploid controls in both cell and mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28430122/a-comprehensive-diverse-omics-approach-to-better-understanding-the-molecular-pathomechanisms-of-down-syndrome
#3
REVIEW
Keiichi Ishihara, Satoshi Akiba
Diverse '-omics' technologies permit the comprehensive quantitative profiling of a variety of biological molecules. Comparative '-omics' analyses, such as transcriptomics and proteomics, are powerful and useful tools for unraveling the molecular pathomechanisms of various diseases. As enhanced oxidative stress has been demonstrated in humans and mice with Down syndrome (DS), a redox proteomic analysis is useful for understanding how enhanced oxidative stress aggravates the state of individuals with oxidative stress-related disorders...
April 21, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28429561/cfdna-screening-performance-accounting-for-and-reducing-test-failures
#4
EDITORIAL
H Cuckle
Over several decades antenatal screening for Down's syndrome steadily evolved from the initial concept of a single second trimester maternal serum marker to complex protocols involving the combination of multiple serum and fetal ultrasound markers, determined within-trimester or sequentially across-trimesters.
April 21, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28428430/collagen-beta-1-o-galactosyltransferase-1-glt25d1-is-required-for-the-secretion-of-high-molecular-weight-adiponectin-and-affects-lipid-accumulation
#5
Julie A Webster, Zhe Yang, Yu-Hee Kim, Dorothy Loo, Rasha M Mosa, Hongzhuo Li, Chen Chen
Secretion of high molecular weight (HMW) adiponectin is dependent on post-translational modification (PTM) of conserved lysines in the collagenous domain. This work aims to characterize the enzymes responsible for the PTM of conserved lysines which leads to HMW adiponectin secretion, and to define its significance in relation to obesity.  Collagen beta (1- O ) galactosyltransferase 1 (GLT25D1) was knocked down in HEK cells modified for the stable expression of adiponectin (Adipo-HEK cells) as well as in Simpson Golabi-Behmel-Syndrome (SGBS) adipocytes...
April 20, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28424993/performing-corneal-crosslinking-under-local-anaesthesia-in-patients-with-down-syndrome
#6
Nienke Soeters, Esmée Bennen, Robert P L Wisse
PURPOSE: To report on the ability to perform corneal crosslinking (CXL) under local anaesthesia for the treatment of keratoconus in patients with Down syndrome. METHODS: Nine eyes of seven patients with both keratoconus and Down syndrome were scheduled for an epithelium-off CXL procedure under local anaesthesia. Exclusion criteria were a corneal thickness under 400 µm and the presence of corneal scars. A standardized clinical decision tool was used to estimate patient cooperation and the likelihood for a successful procedure under local rather than general anaesthesia...
April 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28424273/certainty-of-genuine-treatment-increases-drug-responses-among-intellectually-disabled-patients
#7
Karin B Jensen, Irving Kirsch, Moa Pontén, Annelie Rosén, Kathy Yang, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Aurore Curie
OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered...
April 19, 2017: Neurology
https://www.readbyqxmd.com/read/28424124/acute-respiratory-distress-syndrome-incidence-but-not-mortality-has-decreased-nationwide-a-national-trauma-data-bank-study
#8
Michael Fahr, Glenn Jones, Hollis O'Neal, Juan Duchesne, Danielle Tatum
Acute respiratory distress syndrome (ARDS) incidence is reported to have decreased in recent years. However, no large-scale study to date has exclusively examined ARDS in the critically injured. We sought to examine the national incidence of ARDS and its associated outcomes exclusively in adult trauma patients. The National Trauma Data Bank (NTDB) was queried to evaluate the incidence of ARDS and associated outcomes over a 6-year study period (2007-2012). Included patients were ≥18 years old, with at least one ventilator day, and complications recorded...
April 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28422987/systematic-review-and-meta-analysis-shows-a-specific-micronutrient-profile-in-people-with-down-syndrome-lower-blood-calcium-selenium-and-zinc-higher-red-blood-cell-copper-and-zinc-and-higher-salivary-calcium-and-sodium
#9
Amene Saghazadeh, Maryam Mahmoudi, Atefeh Dehghani Ashkezari, Nooshin Oliaie Rezaie, Nima Rezaei
Different metabolic profiles as well as comorbidities are common in people with Down Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in people with DS are also different. This systematic review was designed to review the literature on micronutrient levels in people with DS compared to age and sex-matched controls without DS. We identified sixty nine studies from January 1967 to April 2016 through main electronic medical databases PubMed, Scopus, and Web of knowledge. We carried out meta-analysis of the data on four essential trace elements (Cu, Fe, Se, and Zn), six minerals (Ca, Cl, K, Mg, Na, and P), and five vitamins (vitamin A, B9, B12, D, and E)...
2017: PloS One
https://www.readbyqxmd.com/read/28421701/corrigendum-to-having-a-son-or-daughter-with-down-syndrome-perspectives-from-mothers-and-fathers-am-j-med-genet-part-a-155-2335-2347
#10
Brian G Skotko, Susan P Levine, Richard Goldstein
No abstract text is available yet for this article.
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28421145/a-framework-for-describing-the-influence-of-service-organisation-and-delivery-on-participation-in-fetal-anomaly-screening-in-england
#11
Hyacinth O Ukuhor, Janet Hirst, S José Closs, William J Montelpare
Objective. The aim of this research was to explore the influence of service organisation and delivery on providers and users' interactions and decision-making in the context of Down's syndrome screening. Methods. A qualitative descriptive study involving online interviews conducted with a purposive sample of 34 community midwives, 35 pregnant women, and 15 partners from two maternity services in different health districts in England. Data were analysed using a combination of grounded theory principles and content analysis and a framework was developed...
2017: Journal of Pregnancy
https://www.readbyqxmd.com/read/28420527/corrigendum-to-first-trimester-combined-test-for-down-syndrome-screening-in-unselected-pregnancies-a-report-of-a-13-year-experience-taiwan-j-obstet-gynecol-52-4-2013-523-526
#12
Fa-Kung Lee, Li-Ching Chen, Mei-Leng Cheong, Ching-Yu Chou, Ming-Song Tsai
No abstract text is available yet for this article.
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420439/fragile-x-syndrome-a-review-of-clinical-and-molecular-diagnoses
#13
REVIEW
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
BACKGROUND: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS...
April 19, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28420357/in-search-of-quality-indicators-for-down-syndrome-healthcare-a-scoping-review
#14
Francine A van den Driessen Mareeuw, Mirjam I Hollegien, Antonia M W Coppus, Diana M J Delnoij, Esther de Vries
BACKGROUND: The medical care chain around Down syndrome (DS) is complex, with many multidisciplinary challenges. The current quality of care is unknown. Outcome-oriented quality indicators have the potential to improve medical practice and evaluate whether innovations are successful. This is particularly interesting for the evolving care for people with DS and intellectual disabilities (ID). The aim of this study was to identify existing indicators for medical DS care, by reviewing the literature...
April 18, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28419502/nuchal-translucency-measurement-free-%C3%AE-hcg-and-papp-a-concentrations-in-ivf-icsi-pregnancies-systematic-review-and-meta-analysis
#15
REVIEW
Paolo Cavoretto, Veronica Giorgione, Sonia Cipriani, Paola Viganò, Massimo Candiani, Annalisa Inversetti, Elena Ricci, Fabio Parazzini
So far data on the effect of assisted reproductive technologies (ART) on the components of first trimester combined screening for Down syndrome are still controversial. A systematic search of the literature was performed in order to identify the effect of ART, particularly IVF and ICSI with fresh embryo transfer, on the nuchal translucency (NT), free β-hCG and PAPP-A measurements. Moreover, a meta-analysis and a descriptive graphical representation of the ratios between ART and spontaneous pregnancies (controls) values of median of the multiple of median (m0MOM) was performed...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419500/antepartum-management-and-obstetric-outcomes-among-pregnancies-with-down-syndrome-from-diagnosis-to-delivery
#16
Stephanie H Guseh, Sarah E Little, Katherine Bennett, Virginia Silva, Louise E Wilkins-Haug
OBJECTIVE: Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide antenatal management. METHOD: Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demographic data, diagnostic testing, antenatal surveillance, obstetrics outcomes, and placental pathology. T-test, chi-square, and Fisher correction were used as indicated...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28417674/international-summit-consensus-statement-intellectual-disability-inclusion-in-national-dementia-plans
#17
Karen Watchman, Matthew P Janicki, Michael Splaine, Frode K Larsen, Tiziano Gomiero, Ronald Lucchino
The World Health Organization (WHO) has called for the development and adoption of national plans or strategies to guide public policy and set goals for services, supports, and research related to dementia. It called for distinct populations to be included within national plans, including adults with intellectual disability (ID). Inclusion of this group is important as having Down's syndrome is a significant risk factor for early-onset dementia. Adults with other ID may have specific needs for dementia-related care that, if unmet, can lead to diminished quality of old age...
January 1, 2017: American Journal of Alzheimer's Disease and Other Dementias
https://www.readbyqxmd.com/read/28417531/desmoid-type-fibromatosis-in-a-boy-with-down-syndrome
#18
Hisashi Ishida, Kousuke Chayama, Kiichiro Kanamitsu, Kana Washio, Takehiro Tanaka, Akira Shimada
Patients with Down syndrome (DS) have a markedly higher incidence of childhood leukemia, but a lower incidence of most solid tumors, compared with age-matched euploid individuals. Trisomy 21 might be protective against tumorigenesis because of several tumor suppressive mechanisms. Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by a variable clinical course. In recent reports, almost all cases of DF involved genomic alterations associated with activation of the Wnt/β-catenin pathway...
April 18, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28414743/the-et-1-mediated-carbonylation-and-degradation-of-anxa1-induce-inflammatory-phenotype-and-proliferation-of-pulmonary-artery-smooth-muscle-cells-in-hps
#19
Jing He, Bin Yi, Yang Chen, Qing Huang, Huan Wang, Kaizhi Lu, Weiling Fu
Hepatopulmonary syndrome (HPS) is a serious complication of advanced liver disease, which markedly increases mortality. Pulmonary vascular remodelling (PVR) induced by circulating mediators plays an important role in the pathogenesis of HPS, while the underlying mechanism remains undefined. In the present study, we reported that endothelin-1 (ET-1) is up-regulated and annexin A1(ANXA1) is down-regulated in HPS rat, and ET-1 decreases the ANXA1 expression in a dose-dependent manner in rat pulmonary arterial smooth muscle cells (PASMCs)...
2017: PloS One
https://www.readbyqxmd.com/read/28413821/cerebrospinal-fluid-biomarkers-for-alzheimer-s-disease-in-down-syndrome
#20
Alain D Dekker, Juan Fortea, Rafael Blesa, Peter P De Deyn
Down syndrome (DS), present in nearly six million people, is associated with an extremely high risk to develop Alzheimer's disease (AD). Amyloid-β and tau pathology are omnipresent from age 40 years onward, but clinical symptoms do not appear in all DS individuals. Dementia diagnostics is complex in this population, illustrating the great need for predictive biomarkers. Although blood biomarkers have not yet proven useful, cerebrospinal fluid (CSF) biomarkers (low amyloid-β42, high t-tau, and high p-tau) effectively contribute to AD diagnoses in the general population and are increasingly used in clinical practice...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
keyword
keyword
34790
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"