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Down syndrome

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https://www.readbyqxmd.com/read/28212103/simulation-of-healing-threshold-in-strain-induced-inflammation-through-a-discrete-informatics-model
#1
Israr Ibrahim, Sanjay Venkata Oruganti, Ramana Pidaparti
Respiratory diseases such as asthma and acute respiratory distress syndrome as well as acute lung injury involve inflammation at the cellular level. The inflammation process is very complex and is characterized by the emergence of cytokines along with other changes in cellular processes. Due to the complexity of the various constituents that makes up the inflammation dynamics, it is necessary to develop models that can complement experiments to fully understand inflammatory diseases. In this study, we developed a discrete informatics model based on cellular automata (CA) approach to investigate the influence of elastic field (stretch/strain) on the dynamics of inflammation and account for probabilistic adaptation based on statistical interpretation of existing experimental data...
February 15, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28211484/regulation-of-mrna-splicing-by-mecp2-via-epigenetic-modifications-in-the-brain
#2
Tian-Lin Cheng, Jingqi Chen, Huida Wan, Bin Tang, Weidong Tian, Lujian Liao, Zilong Qiu
Mutations of X-linked gene Methyl CpG binding protein 2 (MECP2) are the major causes of Rett syndrome (RTT), a severe neurodevelopmental disorder. Duplications of MECP2-containing genomic segments lead to severe autistic symptoms in human. MECP2-coding protein methyl-CpG-binding protein 2 (MeCP2) is involved in transcription regulation, microRNA processing and mRNA splicing. However, molecular mechanisms underlying the involvement of MeCP2 in mRNA splicing in neurons remain largely elusive. In this work we found that the majority of MeCP2-associated proteins are involved in mRNA splicing using mass spectrometry analysis with multiple samples from Mecp2-null rat brain, mouse primary neuron and human cell lines...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28210057/a-comparison-of-the-balance-and-gait-function-between-children-with-down-syndrome-and-typically-developing-children
#3
Hee-Kyoung Jung, EunJung Chung, Byoung-Hee Lee
[Purpose] The purpose of this study was to compare the balance and gait functions of children with Down syndrome and typically developing children according to age. [Subjects and Methods] The subjects were 16 children with Down syndrome and 20 children with typical development. The one leg standing test, Romberg's test (open eyes/closed eyes), sharpened Romberg's (open eyes/closed eyes), functional reaching test and GAITRite were used for this study in order to measure the children's balance and gait function...
January 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28207178/dental-development-in-down-syndrome-and-healthy-children-a-comparative-study-using-the-demirjian-method
#4
M S van der Linden, S Vucic, D J F van Marrewijk, E M Ongkosuwito
OBJECTIVE: In children with Down syndrome, the timing of dental eruption is important for orthodontics treatment planning. Aim of this study was to determine whether tooth eruption and development of the dentition in children with Down syndrome are impaired. MATERIAL AND METHODS: Dental development was scored on orthopantomograms (OPTs) of 95 children with Down syndrome. The dental age was determined at the left mandibular side according to the Demirjian method and by converting the assigned scores to the dental maturity score...
February 16, 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28204906/differential-brain-cognitive-and-motor-profiles-associated-with-partial-trisomy-modeling-down-syndrome-in-mice
#5
Pierre L Roubertoux, Nathalie Baril, Pierre Cau, Christophe Scajola, Adeline Ghata, Catherine Bartoli, Patrice Bourgeois, Julie di Christofaro, Sylvie Tordjman, Michèle Carlier
We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial trisomy 21, we addressed the question in the Mouse in which three chromosomal regions located on MMU10, MMU17 and MMU16 carries almost all the HSA21 homologs. Male mice from four segmental trisomic strains covering the D21S17-ETS2 (syntenic to MMU16) were examined with an exhaustive battery of cognitive tests, motor tasks and MRI and compared with TS65Dn that encompasses D21S17-ETS2...
February 15, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28203607/epigallocatechin-gallate-a-useful-therapy-for-cognitive-disability-in-down-syndrome
#6
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Sandra Guidi, Elisabetta Ciani, Renata Bartesaghi
Neurodevelopmental alterations and cognitive disability are constant features of Down syndrome (DS), a genetic condition due to triplication of chromosome 21. DYRK1A is one of the triplicated genes that is thought to be strongly involved in brain alterations. Treatment of Dyrk1A transgenic mice with epigallocatechin gallate (EGCG), an inhibitor of DYRK1A, improves cognitive performance, suggesting that EGCG may represent a suitable treatment of DS. Evidence in the Ts65Dn mouse model of DS shows that EGCG restores hippocampal development, although this effect is ephemeral...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28202857/cytokine-profiles-in-pericardial-effusion-in-a-down-syndrome-infant-with-transient-abnormal-myelopoiesis
#7
Yoshihiko Shitara, Naoto Takahashi, Yoshinori Aoki, Motohiro Kato, Riki Nishimura, Shinya Tsuchida, Akira Oka
Infants with Down Syndrome (DS) are at risk of developing a transient abnormal myelopoiesis (TAM). TAM is characterised by increased circulating blast cells but usually self-limiting. DS patients with TAM sometimes show fetal hydrops and effusion in body cavities, but the mechanism remains unclear. We report here a case of infant with DS who had pericardial effusion, TAM, and eosinophilia. In her pericardial effusion, white blood cell count was 6.0 × 10(3)/µL, 41% of which were eosinophils. After administration of prednisolone, pericardial effusion gradually decreased, and TAM and eosinophilia improved...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28202616/dna-repair-interacts-with-autophagy-to-regulate-inflammatory-responses-to-pulmonary-hyperoxia
#8
Yan Ye, Ping Lin, Weidong Zhang, Shirui Tan, Xikun Zhou, Rongpeng Li, Qinqin Pu, Jonathan L Koff, Archana Dhasarathy, Feng Ma, Xin Deng, Jianxin Jiang, Min Wu
Oxygen is supplied as a supportive treatment for patients suffering from acute respiratory distress syndrome. Unfortunately, high oxygen concentration increases reactive oxygen species generation, which causes DNA damage and ultimately cell death in the lung. Although 8-oxoguanine-DNA glycosylase (OGG-1) is involved in repairing hyperoxia-mediated DNA damage, the underlying molecular mechanism remains elusive. In this study, we report that ogg-1-deficient mice exhibited a significant increase of proinflammatory cytokines (TNF-α, IL-6, and IFN-γ) in the lung after being exposed to 95% oxygen...
February 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28197808/age-related-alterations-of-the-cd19-complex-and-memory-b-cells-in-children-with-down-syndrome
#9
Ayse Nazli Seckin, Hulya Ozdemir, Ayca Ceylan, Hasibe Artac
Children with Down syndrome (DS) have a high incidence of recurrent respiratory tract infections, leukaemia and autoimmune disorders, suggesting immune dysfunction. The present study evaluated the role of the CD19 complex and memory B cells in the pathogenesis of immunodeficiency in children with DS. The expression levels (median fluorescein intensity-MFI) of CD19, CD21 and CD81 molecules on the surface of B cells and memory B cell subsets were studied in 37 patients and 39 healthy controls. Twenty-nine of the DS group had congenital cardiac disease...
February 14, 2017: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/28197159/an-rna-seq-analysis-of-grape-plantlets-grown-in-vitro-reveals-different-responses-to-blue-green-red-led-light-and-white-fluorescent-light
#10
Chun-Xia Li, Zhi-Gang Xu, Rui-Qi Dong, Sheng-Xin Chang, Lian-Zhen Wang, Muhammad Khalil-Ur-Rehman, Jian-Min Tao
Using an RNA sequencing (RNA-seq) approach, we analyzed the differentially expressed genes (DEGs) and physiological behaviors of "Manicure Finger" grape plantlets grown in vitro under white, blue, green, and red light. A total of 670, 1601, and 746 DEGs were identified in plants exposed to blue, green, and red light, respectively, compared to the control (white light). By comparing the gene expression patterns with the growth and physiological responses of the grape plantlets, we were able to link the responses of the plants to light of different spectral wavelengths and the expression of particular sets of genes...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#11
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28196778/mucopolysaccharidoses-seen-in-adults-in-rheumatology
#12
Stéphane Mitrovic, Hélène Gouze, Laure Gossec, Thierry Schaeverbeke, Bruno Fautrel
Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. However, some of them have a more progressive presentation, with musculoskeletal symptoms at the forefront and a lifespan that nearly reaches that of the general population...
February 11, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28194320/congenital-upper-eyelids-ectropion-in-down-s-syndrome
#13
Rafael Corredor-Osorio, José Luis Tovilla-Pomar, José Luis Tovilla-Canales
Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down's syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down's syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28193191/effective-inhibition-of-mers-cov-infection-by-resveratrol
#14
Shih-Chao Lin, Chi-Tang Ho, Wen-Ho Chuo, Shiming Li, Tony T Wang, Chi-Chen Lin
BACKGROUND: Middle East Respiratory Syndrome coronavirus (MERS-CoV) is an emerging viral pathogen that causes severe morbidity and mortality. Up to date, there is no approved or licensed vaccine or antiviral medicines can be used to treat MERS-CoV-infected patients. Here, we analyzed the antiviral activities of resveratrol, a natural compound found in grape seeds and skin and in red wine, against MERS-CoV infection. METHODS: We performed MTT and neutral red uptake assays to assess the survival rates of MERS-infected Vero E6 cells...
February 13, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28192686/the-down-syndrome-brain-in-the-presence-and-absence-of-fibrillar-%C3%AE-amyloidosis
#15
Tiina Annus, Liam R Wilson, Julio Acosta-Cabronero, Arturo Cardenas-Blanco, Young T Hong, Tim D Fryer, Jonathan P Coles, David K Menon, Shahid H Zaman, Anthony J Holland, Peter J Nestor
People with Down syndrome (DS) have a neurodevelopmentally distinct brain and invariably developed amyloid neuropathology by age 50. This cross-sectional study aimed to provide a detailed account of DS brain morphology and the changes occuring with amyloid neuropathology. Forty-six adults with DS underwent structural and amyloid imaging-the latter using Pittsburgh compound B (PIB) to stratify the cohort into PIB-positive (n = 19) and PIB-negative (n = 27). Age-matched controls (n = 30) underwent structural imaging...
January 17, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28191306/chiropractic-management-of-post-spinal-cord-stimulator-spine-pain-a-case-report
#16
Rachel M Perrucci, Christopher M Coulis
BACKGROUND: A brief overview of failed back surgery syndrome, with emphasis on low back pain status post spinal cord stimulation, and post-surgical spinal manipulation is presented. CASE PRESENTATION: Four cases of patients within the VA Connecticut Health Care System presenting between July 2014 and July 2015 reporting low back pain after surgical insertion of spinal cord stimulators are discussed. This study describes the outcomes experienced by four patients with low back pain status post implanted spinal cord stimulators receiving manual therapy in the form of lumbar spine manipulation or mobilization...
2017: Chiropractic & Manual Therapies
https://www.readbyqxmd.com/read/28188420/clashes-of-consensus-on-the-problem-of-both-justifying-abortion-of-fetuses-with-down-syndrome-and-rejecting-infanticide
#17
Henrik Friberg-Fernros
Although the abortion of fetuses with Down syndrome has become commonplace, infanticide is still widely rejected. Generally, there are three ways of justifying the differentiation between abortion and infanticide: by referring to the differences between the moral status of the fetus versus the infant, by referring to the differences of the moral status of the act of abortion versus the act of infanticide, or by separating the way the permissibility of abortion is justified from the way the impermissibility of infanticide is justified...
February 10, 2017: Theoretical Medicine and Bioethics
https://www.readbyqxmd.com/read/28188263/overexpression-of-mitochondrial-oxodicarboxylate-carrier-odc1-preserves-oxidative-phosphorylation-in-a-yeast-model-of-the-barth-syndrome
#18
Maxence de Taffin de Tilques, Déborah Tribouillard-Tanvier, Emmanuel Tétaud, Eric Testet, Jean-Paul di Rago, Jean-Paul Lasserre
Cardiolipin (CL) is a diglycerol phospholipid mostly found in mitochondria where it optimizes numerous processes including oxidative phosphorylation (OXPHOS). To function properly CL needs to be unsaturated, which requires the acyltransferase tafazzin. Loss-of-function mutations in this protein are responsible for the Barth syndrome (BTHS), presumably because of a diminished OXPHOS capacity. Here we show that overexpressing Odc1p, a conserved oxodicarboxylic acid carrier located in the mitochondrial inner membrane, fully restores oxidative phosphorylation in a yeast model (taz1Δ) of the Barth syndrome...
February 10, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28187370/language-comprehension-in-children-adolescents-and-adults-with-down-syndrome
#19
Bernadette Witecy, Martina Penke
BACKGROUND: There is conflicting evidence as to whether receptive language abilities of individuals with Down syndrome (DS) continue to improve into adulthood, reach a plateau in late adolescence, or even start to decline. AIM: The study aims to shed light on the question whether receptive syntactic skills change from childhood/adolescence to adulthood and provides a detailed qualitative analysis of the receptive abilities of adults with DS. METHODS: 58 individuals with DS participated in the study: 31 children/adolescents (aged: 4;6-19;0 years) and 27 adults (aged: 20;8-40;3 years)...
February 7, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28186593/-prenatal-diagnosis-of-a-case-with-46-xx-del-4-dup-21
#20
Lin Zhang, Meihong Ren, Guining Song, Xuexia Liu, Jing Zhang, Xiaohong Zhang
OBJECTIVE: To investigate the genetic cause and prognosis of a fetus with a rare karyotype. METHODS: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus. RESULTS: The fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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