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"Down syndrome"

Benjamin H Goot, Jon Kaufman, Zhaoxing Pan, David W A Bourne, Francis Hickey, Mark Twite, Jeffrey Galinkin, Uwe Christians, Jeannie Zuk, Eduardo M da Cruz
OBJECTIVES: To assess if morphine pharmacokinetics are different in children with Down syndrome when compared with children without Down syndrome. DESIGN: Prospective single-center study including subjects with Down syndrome undergoing cardiac surgery (neonate to 18 yr old) matched by age and cardiac lesion with non-Down syndrome controls. Subjects were placed on a postoperative morphine infusion that was adjusted as clinically necessary, and blood was sampled to measure morphine and its metabolites concentrations...
March 15, 2018: Pediatric Critical Care Medicine
Changqing Lu, Lihua Dong, Hui Zhou, Qianmei Li, Guojiao Huang, Shu Jun Bai, Linchuan Liao
Oligodendrocytes are the myelin-producing cells of the central nervous system (CNS). A variety of brain disorders from "classical" demyelinating diseases, such as multiple sclerosis, stroke, schizophrenia, depression, Down syndrome and autism, are shown myelination defects. Oligodendrocyte myelination is regulated by a complex interplay of intrinsic, epigenetic and extrinsic factors. Gpr17 (G protein-coupled receptor 17) is a G protein-coupled receptor, and has been identified to be a regulator for oligodendrocyte development...
March 14, 2018: Scientific Reports
Sally-Ann Cooper, Elita Smiley, Linda Allan, Jillian Morrison
BACKGROUND: Incidence and determinants of affective disorders among adults with intellectual disabilities are unknown. Aims To investigate affective disorder incidence, and determinants of unipolar depression, compared with general population reports. METHOD: Prospective cohort study measuring mental ill health of adults with mild to profound intellectual disabilities living within a defined community, over 2 years. RESULTS: There was 70% cohort retention (n = 651)...
March 15, 2018: British Journal of Psychiatry: the Journal of Mental Science
Julie A Reisz, Alexander S Barrett, Travis Nemkov, Kirk C Hansen, Angelo D'Alessandro
Proteins have been historically regarded as "nature's robots": Molecular machines that are essential to cellular/extracellular physical mechanical properties and catalyze key reactions for cell/system viability. However, these robots are kept in check by other protein-based machinery to preserve proteome integrity and stability. During aging, protein homeostasis is challenged by oxidation, decreased synthesis, and increasingly inefficient mechanisms responsible for repairing or degrading damaged proteins...
March 14, 2018: Expert Review of Proteomics
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
Cláudia Lopes Carvalho, Ariella Fornachari Ribeiro Belan, Leila Regina de Castro, Márcia Radanovic
PURPOSE: To characterize the linguistic profile of adults and elderly with Down Syndrome (DS) using the Arizona Battery for Communication Disorders of Dementia (ABCD). METHODS: Thirty adult individuals with DS were evaluated through the MoCA cognitive battery, four functional scales (Pfeffer, Lawton-IADL, Katz-IADL and IQCODE) and the ABCD battery, which evaluates Mental State, Episodic Memory, Linguistic Expression, Linguistic Comprehension and Visuospatial Construction...
March 12, 2018: CoDAS
A Dunham, D Kinnear, L Allan, E Smiley, S-A Cooper
BACKGROUND: People with intellectual disabilities face a much greater burden and earlier onset of physical and mental ill-health than the general adult population. Physical-mental comorbidity has been shown to result in poorer outcomes in the general population, but little is known about this relationship in adults with intellectual disabilities. AIMS: To identify whether physical ill-health is associated with mental ill-health in adults with intellectual disabilities and whether the extent of physical multi-morbidity can predict the likelihood of mental ill-health...
March 12, 2018: Journal of Intellectual Disability Research: JIDR
Marjorie Felgines
Denis is a 62-year-old man with Down syndrome. He lives in a residential home and is retired from a supported employment service centre. Since suffering a stroke, Denis has been relatively immobile, looking on as a spectator in the medical-social centre where he is living. Anticipating his advancing years, the team has turned to a gerontological team which will intervene in a centre for people with disabilities.
March 2018: Soins. Gérontologie
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
Hai-Qin Huo, Zhuang-Yin Qu, Fang Yuan, Lixiang Ma, Lin Yao, Min Xu, Yao Hu, Jing Ji, Anita Bhattacharyya, Su-Chun Zhang, Yan Liu
The brain of Down syndrome (DS) patients exhibits fewer interneurons in the cerebral cortex, but its underlying mechanism remains unknown. By morphometric analysis of cortical interneurons generated from DS and euploid induced pluripotent stem cells (iPSCs), we found that DS GABA neurons are smaller and with fewer neuronal processes. The proportion of calretinin over calbindin GABA neurons is reduced, and the neuronal migration capacity is decreased. Such phenotypes were replicated following transplantation of the DS GABAergic progenitors into the mouse medial septum...
February 28, 2018: Stem Cell Reports
M Fructuoso, L Rachdi, E Philippe, R G Denis, C Magnan, H Le Stunff, N Janel, M Dierssen
No abstract text is available yet for this article.
March 7, 2018: Free Radical Biology & Medicine
Bradley Pawlikowski, Nicole Dalla Betta, Tiffany Elston, Darian A Williams, Bradley B Olwin
Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome...
March 9, 2018: Scientific Reports
Matthew Tamplen, Tristan Fowler, Jeffery Markey, P Daniel Knott, Larry J Suva, Tamara Alliston
BACKGROUND: Anti-Sclerostin antibody (Scl-Ab) is a promising new bone anabolic therapy. Although anti-Scl-Ab stimulates bone formation and repair in the appendicular and axial skeleton, its efficacy in the craniofacial skeleton is still poorly understood. METHODS: Using an established model of Down syndrome-dependent bone deficiency, 10 Ts65Dn mice and 10 wild-type mice were treated weekly via i.v. tail vein injection with vehicle or anti-Sclerostin for 3 weeks and euthanized 1 week after...
March 9, 2018: Head & Neck
Lifu Sheng, Iryna Leshchyns'ka, Vladimir Sytnyk
The neural cell adhesion molecule 2 (NCAM2) is encoded by a gene on chromosome 21 in humans. NCAM2 accumulates in synapses, but its role in regulation of synapse formation remains poorly understood. We demonstrate that an increase in NCAM2 levels results in increased instability of dendritic protrusions and reduced conversion of protrusions to dendritic spines in mouse cortical neurons. NCAM2 overexpression induces an increase in the frequency of submembrane Ca2+ spikes localized in individual dendritic protrusions and promotes propagation of submembrane Ca2+ spikes over segments of dendrites or the whole dendritic tree...
March 7, 2018: Cerebral Cortex
Georgina M Williams, Patricia Neville, Kathleen M Gillespie, Sam D Leary, Julian P Hamilton-Shield, Aidan J Searle
OBJECTIVE: To understand how to maximise recruitment of young infants with Down's syndrome (DS) into research through qualitative interviews with parents and care providers. In complex neonatal and genetic conditions such as DS, frequently diagnosed after birth, parents may go through a period of adaptation. These factors need consideration when overcoming barriers to recruitment. PARTICIPANTS AND DESIGN: Participants, who were drawn from health professionals and volunteers working with families experiencing DS, were recruited using a purposive sampling strategy...
March 8, 2018: Archives of Disease in Childhood
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
Talita Maria Monteiro Farias Barbosa, Ivonaldo Leidson Barbosa Lima, Giorvan Ânderson Dos Santos Alves, Isabelle Cahino Delgado
PURPOSE: To analyze the contributions of speech-language therapy in the integration of young individuals with Down syndrome (DS) into the workplace, with reference to their professionalization. METHODS: A questionnaire was distributed to eight undergraduate students (tutors) who participated in a project with individuals with DS, five mothers of individuals with DS, and five employees from the institution in which the present study was conducted. The questionnaire assessed the communication, memory, behavior, social interaction, autonomy and independence of the participants with DS, called "trainees"...
March 1, 2018: CoDAS
Qing Mu, Weidong Yu, Shuying Zheng, Hongxia Shi, Mei Li, Jie Sun, Di Wang, Xiaoli Hou, Ling Liu, Xinjuan Wang, Zhuran Zhao, Rong Liang, Xue Zhang, Wei Dong, Chaomei Zeng, Jingzhu Guo
Vitamin A deficiency and mitochondrial dysfunction are both associated with neural differentiation-related disorders, such as Alzheimer's disease (AD) and Down syndrome (DS). The mechanism of vitamin A-induced neural differentiation and the notion that vitamin A can regulate the morphology and function of mitochondria in its induction of neural differentiation through the RIP140/PGC-1α axis are unclear. The aim of this study was to investigate the roles and underlying mechanisms of RIP140/PGC-1α axis in vitamin A-induced neural differentiation...
March 7, 2018: Artificial Cells, Nanomedicine, and Biotechnology
Daniel A Maranho, Kathryn A Williams, Michael B Millis, Young-Jo Kim, Eduardo N Novais
BACKGROUND: The treatment of hip dysplasia in patients with Down syndrome is challenging. We investigated the clinical, functional, and radiographic outcomes of periacetabular osteotomy (PAO) as well as factors associated with its failure at a minimum of 5 years of follow-up. METHODS: Between 1992 and 2011, 19 patients with Down syndrome (26 hips) underwent PAO at a mean age of 16.2 ± 4.7 years. Hip pain and function were assessed with use of the modified Harris hip score (HHS) and the Gross Motor Function Classification System (GMFCS)...
March 7, 2018: Journal of Bone and Joint Surgery. American Volume
Sandra Guidi, Andrea Giacomini, Fiorenza Stagni, Marco Emili, Beatrice Uguagliati, Maria Paola Bonasoni, Renata Bartesaghi
Down syndrome (DS) is a genetic condition associated with impairment in several cognitive domains. Previous evidence showed a notable neurogenesis reduction in the hippocampal region of DS fetuses, which may account for the impairment of declarative memory that characterizes DS starting from early life stages. The fusiform gyrus (FG) and the inferior temporal gyrus (ITG) play a key role in visual recognition memory, a function that is impaired in children and adults with DS. The goal of the current study was to establish whether fetuses with DS (17-21 weeks of gestation) exhibit neuroanatomical alterations in the FG and ITG that may underlie recognition memory impairment...
March 6, 2018: Brain Pathology
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