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down syndrome adults

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https://www.readbyqxmd.com/read/28525373/aquaporins-1-3-and-8-expression-in-irritable-bowel-syndrome-rats-colon-via-nf-%C3%AE%C2%BAb-pathway
#1
Guanqun Chao, Shuo Zhang
OBJECTIVE: Our research was to detect the expression of aquaporins. NF-κB in Irritable bowel syndrome (IBS) rat models' colon so as to find novel pathogenesisof IBS. RESULTS: The expression of AQP1, AQP3, and AQP8 of IBS model group was down-regulated while NF-κB p65 was up-regulated comparing with control group (p < 0.05), and the expression of AQP1, AQP3, and AQP8 of inhibitor group was up-regulated while NF-κB p65 was down-regulated comparing with IBS model group (p < 0...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28523857/arrhythmia-burden-and-related-outcomes-in-eisenmenger-syndrome
#2
Shankar Baskar, Philippa Horne, Samantha Fitzsimmons, Philip R Khoury, Joseph Vettukattill, Koichiro Niwa, Teiji Agaki, Mark Spence, Hisanori Sakazaki, Gruschen Veldtman
BACKGROUND: Patients with Eisenmenger syndrome have a shorter lifespan than the general population. A significant proportion develop arrhythmia and some, sudden death. OBJECTIVE: The aims of this study were to characterize the frequency, type and effects of arrhythmias in adult patients with Eisenmenger's syndrome and to identify risk factors for arrhythmias. METHODS: This retrospective study included patients aged ≥ 18 years of age with Eisenmenger's syndrome from three institutions...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28488382/neuron-specific-knockdown-of-the-drosophila-fat-induces-reduction-of-life-span-deficient-locomotive-ability-shortening-of-motoneuron-terminal-branches-and-defects-in-axonal-targeting
#3
Aya Nakamura, Ryo Tanaka, Kazushige Morishita, Hideki Yoshida, Yujiro Higuchi, Hiroshi Takashima, Masamitsu Yamaguchi
Mutations in FAT4 gene, one of the human FAT family genes, have been identified in Van Maldergem syndrome (VMS) and Hennekam lymphangiectasia-lymphedema syndrome (HS). The FAT4 gene encodes a large protein with extracellular cadherin repeats, EGF-like domains and Laminin G-like domains. FAT4 plays a role in tumor suppression and planar cell polarity. Drosophila contains a human FAT4 homologue, fat. Drosophila fat has been mainly studied with Drosophila eye and wing systems. Here, we specially knocked down Drosophila fat in nerve system...
May 9, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28453471/a-randomized-double-blind-placebo-controlled-phase-ii-study-of-oral-elnd005-scyllo-inositol-in-young-adults-with-down-syndrome-without-dementia
#4
Michael S Rafii, Brian G Skotko, Mary Ellen McDonough, Margaret Pulsifer, Casey Evans, Eric Doran, Gabriela Muranevici, Patrick Kesslak, Susan Abushakra, Ira T Lott
BACKGROUND: ELND005 (scyllo-Inositol; cyclohexane-1,2,3,4,5,6-hexol) has been evaluated as a potential disease-modifying treatment for Alzheimer's disease (AD). Individuals with Down syndrome (DS) have an increased risk for developing AD dementia. OBJECTIVE: To evaluate the safety and tolerability of ELND005 and to determine its pharmacokinetics (PK) and relationship between PK parameters, safety outcome measures, and exploratory efficacy outcome measures in young adults with DS without dementia...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28452583/associations-of-child-and-adolescent-mastery-motivation-and-self-regulation-with-adult-outcomes-a-longitudinal-study-of-individuals-with-down-syndrome
#5
Linda Gilmore, Monica Cuskelly
This 20-year prospective longitudinal study focuses on the contribution of mastery motivation and self-regulation to adult outcomes for individuals with Down syndrome. In earlier phases of the research, 25 participants completed measures of cognitive ability, mastery motivation and self-regulation in childhood (4 to 6 years) and adolescence (11 to 15 years). In the adult phase reported here, self-determination and adaptive behavior were assessed in 21 of the original participants at age 23 to 26 years. Mastery motivation and self-regulation made unique contributions to adult outcomes, over and above the effects of cognitive ability...
May 2017: American Journal on Intellectual and Developmental Disabilities
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
#6
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/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/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/28420439/fragile-x-syndrome-a-review-of-clinical-and-molecular-diagnoses
#9
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/28417674/international-summit-consensus-statement-intellectual-disability-inclusion-in-national-dementia-plans
#10
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/28411579/self-injury-and-aggression-in-adults-with-tuberous-sclerosis-complex-frequency-associated-person-characteristics-and-implications-for-assessment
#11
Lucy Wilde, Kate Eden, Petrus de Vries, Jo Moss, Alice Welham, Chris Oliver
Even though self-injury and aggression are common in tuberous sclerosis complex (TSC), understanding of these behaviours in adults with TSC and intellectual disability (ID) is limited. Little is known about their frequency in comparison to other ID-related genetic disorders or their association with other TSC-Associated Neuropsychiatric Disorders (TAND). This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC...
April 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28411023/comparison-of-bioelectrical-impedance-and-dxa-for-measuring-body-composition-among-adults-with-down-syndrome
#12
Michael R Esco, Brett S Nickerson, Angela R Russell
BACKGROUND: Individuals with Down syndrome (DS) have been shown to display high levels of adiposity and a unique body shape. Laboratory methods used to evaluate body composition might be too cumbersome for this special population. Therefore, field methods are desired due to their non-invasive nature. OBJECTIVE: to determine the agreement between dual energy x-ray absorptiometry (DXA) and bioelectrical impedance analysis (BIA) for measuring body fat percentage BF% and fat-free mass (FFM) among adults with DS...
March 22, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28387614/reduction-of-atlantoaxial-dislocation-prevented-by-pathological-position-of-the-transverse-ligament-in-fixed-irreducible-os-odontoideum-operative-illustrations-and-radiographic-correlates-in-41-patients
#13
Brian J Dlouhy, Bruno A Policeni, Arnold H Menezes
OBJECTIVE Os odontoideum (OO) is a craniovertebral junction (CVJ) abnormality in which an ossicle (small bone) is cranial to a hypoplastic dens by a variable gap. This abnormality can result in instability, which may be reducible or irreducible. What leads to irreducibility in OO is unclear. Therefore, the authors sought to better understand the causes of irreducibility in OO. METHODS A retrospective review was conducted, which identified more than 200 patients who had undergone surgical treatment for OO between 1978 and 2015 at the University of Iowa Hospitals and Clinics...
April 7, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28377597/dyrk1a-overexpression-leads-to-increase-of-3r-tau-expression-and-cognitive-deficits-in-ts65dn-down-syndrome-mice
#14
Xiaomin Yin, Nana Jin, Jianhua Shi, Yanchong Zhang, Yue Wu, Cheng-Xin Gong, Khalid Iqbal, Fei Liu
Alternative splicing of tau exon 10 generates tau isoforms with three or four microtubule-binding repeats, 3R-tau and 4R-tau, which is equally expressed in adult human brain. Imbalanced expression in 3R-tau and 4R-tau has been found in several sporadic and inherited tauopathies, suggesting that dysregulation of tau exon 10 is sufficient to cause neurodegenerative diseases. We previously reported that Dyrk1A, which is overexpressed in Down syndrome brains, regulates alternative splicing of exogenous tau exon 10...
April 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28375797/leisure-activity-and-caregiver-involvement-in-middle-aged-and-older-adults-with-down-syndrome
#15
Iulia Mihaila, Sigan L Hartley, Benjamin L Handen, Peter D Bulova, Rameshwari V Tumuluru, Darlynne A Devenny, Sterling C Johnson, Patrick J Lao, Bradley T Christian
The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30-53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure activities, with low participation in physical and mentally stimulating leisure activities. Residence and time spent with primary caregiver were associated with participation in physical leisure activity...
April 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28374408/morphological-alterations-in-the-hippocampus-of-the-ts65dn-mouse-model-for-down-syndrome-correlate-with-structural-plasticity-markers
#16
Olga Villarroya, Raúl Ballestín, Rosa López-Hidalgo, Maria Mulet, José Miguel Blasco-Ibáñez, Carlos Crespo, Juan Nacher, Javier Gilabert-Juan, Emilio Varea
Down syndrome (DS) is the most common chromosomal aneuploidy. Although trisomy on chromosome 21 can display variable phenotypes, there is a common feature among all DS individuals: the presence of intellectual disability. This condition is partially attributed to abnormalities found in the hippocampus of individuals with DS and in the murine model for DS, Ts65Dn. To check if all hippocampal areas were equally affected in 4-5 month adult Ts65Dn mice, we analysed the morphology of dentate gyrus granule cells and cornu ammonis pyramidal neurons using Sholl method on Golgi-Cox impregnated neurons...
April 4, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28368015/early-neurotrophic-pharmacotherapy-rescues-developmental-delay-and-alzheimer-s-like-memory-deficits-in-the-ts65dn-mouse-model-of-down-syndrome
#17
Syed Faraz Kazim, Julie Blanchard, Riccardo Bianchi, Khalid Iqbal
Down syndrome (DS), caused by trisomy 21, is the most common genetic cause of intellectual disability and is associated with a greatly increased risk of early-onset Alzheimer's disease (AD). The Ts65Dn mouse model of DS exhibits several key features of the disease including developmental delay and AD-like cognitive impairment. Accumulating evidence suggests that impairments in early brain development caused by trisomy 21 contribute significantly to memory deficits in adult life in DS. Prenatal genetic testing to diagnose DS in utero, provides the novel opportunity to initiate early pharmacological treatment to target this critical period of brain development...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28361989/testis-transcriptome-modulation-in-klinefelter-patients-with-hypospermatogenesis
#18
Marco D'Aurora, Alberto Ferlin, Andrea Garolla, Sara Franchi, Laura D'Onofrio, Oriana Trubiani, Giandomenico Palka, Carlo Foresta, Liborio Stuppia, Valentina Gatta
The main genetic cause of male infertility is represented by the Klinefelter Syndrome (KS), a condition accounting for 3% of all cases of infertility and up to15% of cases of azoospermia. KS is generally characterized by azoospermia; approximately 10% of cases have severe oligozoospermia. Among these, the 30-40% of patients show hypospermatogenesis. The mechanisms leading to adult testis dysfunctions are not completely understood. A microarray transcriptome analysis was performed on testis biopsies obtained from three KS patients with hypospermatogenesis and three control subjects...
March 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28349621/-it-feels-sometimes-like-my-house-has-burnt-down-but-i-can-see-the-sky-a-qualitative-study-exploring-patients-views-of-cognitive-behavioural-therapy-for-chronic-fatigue-syndrome
#19
Federica Picariello, Sheila Ali, Caroline Foubister, Trudie Chalder
OBJECTIVES: Cognitive behavioural therapy (CBT) is currently a first-line treatment for chronic fatigue syndrome (CFS). Even though the results from trials are promising, there is variability in patient outcomes. The aim of this study was to explore the experiences of patients with CFS who undertook CBT at a specialist service for CFS. DESIGN: This was a qualitative study. METHODS: Thirteen patients with CFS, approaching the end of CBT, participated in semi-structured interviews...
March 28, 2017: British Journal of Health Psychology
https://www.readbyqxmd.com/read/28346765/the-medial-temporal-memory-system-in-down-syndrome-translating-animal-models-of-hippocampal-compromise
#20
Caron A C Clark, Fabian Fernandez, Stella Sakhon, Goffredina Spanò, Jamie O Edgin
Recent studies have highlighted the dentate gyrus as a region of increased vulnerability in mouse models of Down syndrome (DS). It is unclear to what extent these findings are reflected in the memory profile of people with the condition. We developed a series of novel tasks to probe distinct medial temporal functions in children and young adults with DS, including object, spatial, and temporal order memory. Relative to mental age-matched controls (n = 45), individuals with DS (n = 28) were unimpaired on subtests involving short-term object or configural recall that was divorced from spatial or temporal contexts...
March 27, 2017: Hippocampus
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