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https://www.readbyqxmd.com/read/28437531/applicability-of-the-improve-it-trial-to-current-patients-with-acute-coronary-syndrome-an-ncdr-research-to-practice-project
#1
Thomas M Maddox, Fengming Tang, John R Downs, Frederick A Masoudi, Salim S Virani, Stacie L Daugherty, John S Rumsfeld
No abstract text is available yet for this article.
April 24, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/28437280/inhibition-of-rho-kinase-attenuates-left-ventricular-remodeling-caused-by-chronic-intermittent-hypoxia-in-rats-via-suppressing-myocardial-inflammation-and-apoptosis
#2
Zhi-Hua Wang, Die Zhu, Sheng Xie, Yan Deng, Yueying Pan, Jie Ren, Hui-Guo Liu
Chronic intermittent hypoxia (CIH), the hallmark of obstructive sleep apnea syndrome (OSAS), has been reported to play a key role in the development of OSAS-associated cardiovascular diseases including cardiac remodeling. RhoA/Rho-kinase (ROCK) pathway has also been implicated in myocardial remodeling, but the exact mechanisms are not fully elucidated. The current study's purpose is to investigate the influence of fasudil, a selective ROCK inhibitor, on CIH-induced left ventricular remodeling in rats and its possible mechanisms...
April 18, 2017: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/28436632/-localization-of-gestational-age-reference-table-and-its-application-in-prenatal-screening
#3
Linlin Dou, Guohui Yang, Weiming Mo
Objective: To establish a fetal biparietal diameter (BPD)-gestational age formula based on the data of pregnant women from Xiaoshan District of Hangzhou, and to evaluate its application in prenatal screening. Methods: Data of 3500 pregnant women with gestational age between 15 weeks and 19 weeks+6 receiving prenatal screening in Xiaoshan Hospital during May 2014 and May 2015 were collected. BPDs were used to establish a localized BPD-gestational age formula. The localized formula was used to evaluate the prenatal screening risks in 1759 pregnant women with irregular menstrual cycles or uncertain last menstrual period (LMP) in Xiaoshan District, and the results were compared with those calculated using formula in LifeCycle 4...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#4
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28435357/effectiveness-of-audiovisual-distraction-with-computerized-delivery-of-anesthesia-during-the-placement-of-stainless-steel-crowns-in-children-with-down-syndrome
#5
Kausar Sadia Fakhruddin, Hisham El Batawi, M O Gorduysus
OBJECTIVE: Assessing effectiveness of audiovisual (AV) distraction with/without video eyewear and computerized delivery system-intrasulcular (CDS-IS) for local anesthesia during placement of stainless steel crowns for the management of pathological tooth grinding in children with Down syndrome. MATERIALS AND METHODS: This clinical study includes 22 children (13 boys and 9 girls), with mean age being 7.1 years. The study involved three sessions 1-week apart. During Session I, dental prophylaxis to the upper jaw was done while watching a movie projected on the ceiling without video eyewear whereas prophylaxis for the lower jaw and impressions of both jaws were taken while watching another movie using eyewear projection...
January 2017: European Journal of Dentistry
https://www.readbyqxmd.com/read/28434272/wideband-acoustic-immittance-in-children-with-down-syndrome-prediction-of-middle-ear-dysfunction-conductive-hearing-loss-and-patent-pe-tubes
#6
Lisa L Hunter, Douglas H Keefe, M Patrick Feeney, David K Brown, Jareen Meinzen-Derr, Alaaeldin M Elsayed, Julia M Amann, Vairavan Manickam, Denis Fitzpatrick, Sally R Shott
OBJECTIVE: The purpose of this study was to evaluate pressurised wideband acoustic immittance (WAI) tests in children with Down syndrome (DS) and in typically developing children (TD) for prediction of conductive hearing loss (CHL) and patency of pressure equalising tubes (PETs). DESIGN: Audiologic diagnosis was determined by audiometry in combination with distortion-product otoacoustic emissions, 0.226 kHz tympanometry and otoscopy. WAI results were compared for ears within diagnostic categories (Normal, CHL and PET) and between groups (TD and DS)...
April 22, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28433791/employment-and-choice-making-for-adults-with-intellectual-disability-autism-and-down-syndrome
#7
Kelsey L Bush, Marc J Tassé
BACKGROUND: Adults with disabilities are employed at a significantly lower rate than adults without disabilities. Of adults with disabilities in the workforce, more individuals work in a facility setting rather than a community setting, despite efforts to improve community inclusion. Choice-making has been proposed as a predictive factor for employment for individuals with disabilities. AIMS: The purpose of this research was to examine the current state of employment for three groups of adults with intellectual disability (ID): individuals with autism spectrum disorder (ASD), individuals with Down syndrome (DS), and individuals with idiopathic ID...
April 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#8
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28431488/core-vocabulary-of-young-children-with-down-syndrome
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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