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https://www.readbyqxmd.com/read/28238790/multifunctional-liposomes-interact-with-abeta-in-human-biological-fluids-therapeutic-implications-for-alzheimer-s-disease
#1
Elisa Conti, Maria Gregori, Isabella Radice, Fulvio Da Re, Denise Grana, Francesca Re, Elisa Salvati, Massimo Masserini, Carlo Ferrarese, Chiara Paola Zoia, Lucio Tremolizzo
The accumulation of extracellular amyloid beta (Abeta42) both in brain and in cerebral vessels characterizes Alzheimer's disease (AD) pathogenesis. Recently, the possibility to functionalize nanoparticles (NPs) surface with Abeta42 binding molecules, making them suitable tools for reducing Abeta42 burden has been shown effective in models of AD. Aim of this work consisted in proving that NPs might be effective in sequestering Abeta42 in biological fluids, such as CSF and plasma. This demonstration is extremely important considering that these Abeta42 pools are in continuum with the brain parenchyma with drainage of Abeta from interstitial brain tissue to blood vessel and plasma...
February 23, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28237536/early-experience-of-macitentan-for-pulmonary-arterial-hypertension-in-adult-congenital-heart-disease
#2
S Herbert, W Gin-Sing, L Howard, R M R Tulloh
BACKGROUND: Endothelin receptor antagonists (ERA) have been recognised as effective therapy for pulmonary arterial hypertension in congenital heart disease (CHD-PH), and Eisenmenger syndrome (ES) since the Breathe 5 study. A new dual receptor antagonist - Macitentan - is currently undergoing trials to determine its efficacy in simple ES. To date there is little information on this therapy in CHD and we report our first experience, some with more complex diseases. METHODS: Data was collected prospectively from September 2014...
February 6, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28237490/study-of-concentration-of-amniotic-fluid-alpha-fetal-protein-in-thalassemia-fetus
#3
Yi Ling, Yan-Hong Yu, Song Jin, Chun-Xia Hu, Wei Peng, Hong-Yu Zhang, Huo Fu, Ning Zhang, Yan-Xin Wei
OBJECTIVES: To test the hypothesis that concentration of amniotic fluid alpha-fetal protein (AFAFP) is increased in thalassemia fetus. METHODS: A total of 135 cases of amniocentesis admitted from July 2013 to December 2014 were included in this study. Among them 98 cases of normal fetuses were assigned into control group and 37 cases of thalassemia fetus were included as thalassemia fetus group. Alpha-fetoprotein levels detected by enzyme linked immunosorbent assay and the alpha-fetoprotein concentration were compared between the two groups...
February 2017: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/28236089/response-abilities-of-children-with-down-syndrome-and-other-intellectual-developmental-disorders
#4
Pratiksha Tilak Rao, Vasudeva Guddattu, John Michael Solomon
Efficiency with which a task is performed results from the precise timing and force with which the task is executed. We aimed at assessing the influence of change in task constructs on the response abilities of children who are known to have impaired perceptual motor control. To answer this question, we assessed the response abilities in terms of response time(RT) and response force(RF) among children with Down Syndrome(DS), intellectual developmental disorders(IDD) and those who are typically developing. A response analyzer was used to assess their response abilities across a variety of task constructs namely while performing a simple response task, dual task (i...
February 24, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28230293/influence-of-complex-childhood-diseases-on-variation-in-growth-and-skeletal-development
#5
REVIEW
Babette S Zemel
The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth...
February 23, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28229933/nuclear-lamins-and-progerin-are-dispensable-for-antioxidant-nrf2-response-to-arsenic-and-cadmium
#6
Kazunori Hashimoto, Rima Majumdar, Yoshiaki Tsuji
Lamins are important constituents of the nuclear inner membrane and provide a platform for transcription factors and chromatin. Progerin, a C-terminal truncated lamin A mutant, causes premature aging termed Hutchinson-Gilford Progeria Syndrome (HGPS). Oxidative stress appears to be involved in the pathogenesis of HGPS, although the mechanistic role of progerin remains elusive. Here we examined whether nuclear lamins are important for a cellular antioxidant mechanism, and whether progerin compromises it. We investigated the activation of nuclear factor-E2-related factor 2 (Nrf2) which regulates various antioxidant genes including heme oxygenase-1 (HMOX1), following exposure to sodium arsenite or cadmium chloride in lamin knockdown human cell lines and primary HGPS human fibroblasts...
February 14, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28229031/characterization-of-sleep-architecture-in-down-syndrome-patients-pre-and-post-airway-surgery
#7
Mark Mims, Prasad John Thottam, Dennis Kitsko, Amber Shaffer, Sukgi Choi
OBJECTIVES: To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively. STUDY DESIGN: The study was a retrospective review. METHODS: Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children's hospital for obstructive sleep apnea (OSA) were investigated. Postoperative changes in respiratory parameters and sleep architecture (SA) were assessed and compared to general pediatric normative data using paired t-tests and Wilcoxon signed-rank test...
January 17, 2017: Curēus
https://www.readbyqxmd.com/read/28224663/loss-of-mlh1-sensitizes-colon-cancer-cells-to-dna-pkcs-inhibitor-ku60648
#8
Inga Hinrichsen, Anne Ackermann, Tonja Düding, Annika Graband, Natalie Filmann, Guido Plotz, Stefan Zeuzem, Angela Brieger
Germline mutations of MLH1 are responsible for tumor generation in nearly 50% of patients with Lynch Syndrome, and around 15% of sporadic colorectal cancers show MLH1-deficiency due to promotor hypermethylation. Although these tumors are of lower aggressiveness the benefit for these patients from standard chemotherapy is still under discussion. Recently, it was shown that the sensitivity to the DNA-PKcs inhibitor KU60648 is linked to loss of the MMR protein MSH3. However, loss of MSH3 is rather secondary, as a consequence of MMR-deficiency, and frequently detectable in MLH1-deficient tumors...
February 22, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28224273/over-expression-of-mir-196b-5p-is-significantly-associated-with-the-progression-of-myelodysplastic-syndrome
#9
Jing Wen, Ying Huang, Hongying Li, Xupai Zhang, Peng Cheng, Donghong Deng, Zhigang Peng, Jun Luo, Weihua Zhao, Yongrong Lai, Zhenfang Liu
Myelodysplastic syndrome (MDS) is a clonal stem cell disorder characterized by ineffective hematopoiesis with a high risk of transformation to acute myeloid leukemia (AML). miRNAs function as tumor suppressors and oncogenes in various cancers and regulate the differentiation potential of hematopoietic stem and progenitor cells (HSPCs). It has been suggested that miRNAs may play an important role in progression of MDS. We analyzed bone marrow samples collected from MDS patients according to different risk stratification indicated by the International Prognostic Scoring System (IPSS)...
February 21, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28223397/what-people-with-down-syndrome-can-teach-us-about-cardiopulmonary-disease
#10
REVIEW
Kelley L Colvin, Michael E Yeager
Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension)...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28222530/generation-and-partial-characterization-of-rabbit-monoclonal-antibody-to-amyloid-%C3%AE-peptide-1-37-a%C3%AE-37
#11
Pankaj D Mehta, Jean-Francois Blain, Emily A Freeman, Bruce A Patrick, Marc Barshatzky, Lori A Hrdlicka, Sangita P Mehta, Janusz Frackowiak, Bozena Mazur-Kolecka, Jerzy Wegiel, Holger Patzke, David L Miller
Secreted soluble amyloid-β 1-37 (Aβ37) peptide is one of the prominent Aβ forms next to Aβ40, and is found in cerebrospinal fluid (CSF) and blood. Recent studies have shown the importance of quantitation of CSF Aβ37 levels in combination with Aβ38, Aβ40, and Aβ42 to support the diagnosis of patients with probable Alzheimer's disease (AD), and the value of antibody to Aβ37 to facilitate drug discovery studies. However, the availability of reliable and specific monoclonal antibody to Aβ37 is very limited...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222523/anomalous-white-matter-structure-and-the-effect-of-age-in-down-syndrome-patients
#12
Raquel Fenoll, Jesus Pujol, Susanna Esteba-Castillo, Susana de Sola, Núria Ribas-Vidal, Javier García-Alba, Gonzalo Sánchez-Benavides, Gerard Martínez-Vilavella, Joan Deus, Mara Dierssen, Ramón Novell-Alsina, Rafael de la Torre
BACKGROUND: Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages. OBJECTIVE: The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident...
February 7, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222214/segregation-and-expression-analyses-of-habp2-insights-from-a-large-series-of-familial-non-medullary-thyroid-cancers-and-literature-review
#13
Carla Colombo, Marina Muzza, Maria Carla Proverbio, Giulia Ercoli, Michela Perrino, Valentina Cirello, Leonardo Vicentini, Stefano Ferrero, Laura Fugazzola
INTRODUCTION: Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in a large kindred with non-syndromic familial non medullary thyroid cancer (FNMTC). Nevertheless, this postulated role was not confirmed in additional cohorts. Contrasting data are also available on HABP2 expression in the thyroid. OBJECTIVES: To investigate HABP2 as a potential susceptibility gene in a large series of 27 unrelated families with FNMTC and to test its expression in thyroid tumor and matched normal tissues...
February 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28222204/comparative-transcriptome-and-potential-antiviral-signaling-pathways-analysis-of-the-gills-in-the-red-swamp-crayfish-procambarus-clarkii-infected-with-white-spot-syndrome-virus-wssv
#14
Zhi-Qiang Du, Yan-Hui Jin
Red swamp crayfish is an important model organism for research of the invertebrate innate immunity mechanism. Its excellent disease resistance against bacteria, fungi, and viruses is well-known. However, the antiviral mechanisms of crayfish remain unclear. In this study, we obtained high-quality sequence reads from normal and white spot syndrome virus (WSSV)-challenged crayfish gills. For group normal (GN), 39,390,280 high-quality clean reads were randomly assembled to produce 172,591 contigs; whereas, 34,011,488 high-quality clean reads were randomly assembled to produce 182,176 contigs for group WSSV-challenged (GW)...
February 20, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28220267/chimpanzee-down-syndrome-a-case-study-of-trisomy-22-in-a-captive-chimpanzee
#15
Satoshi Hirata, Hirohisa Hirai, Etsuko Nogami, Naruki Morimura, Toshifumi Udono
We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee...
February 21, 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28218875/balance-and-coordination-capacities-of-male-children-and-adolescents-with-intellectual-disability
#16
Ken Pitetti, Ruth Ann Miller, Michael Loovis
Children and adolescents with intellectual disability (ID) exhibit a mixture of cognitive, motor, and psychosocial limitation. Identifying specific inadequacies in motor proficiency in youth with ID would improve therapeutic management to enhance functional capacity and health-related physical activity. The purpose of this study was to initiate descriptive data collection of gross motor skills of youth with ID and compare those skills with competency norms. The Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) was used to measure 6 items for balance (BAL), 5 items for upper limb coordination (ULC), and 6 items for bilateral coordination (BLC) of 123 males (ages 8-18) with ID but without Down syndrome...
January 2017: Adapted Physical Activity Quarterly: APAQ
https://www.readbyqxmd.com/read/28217086/increased-sparsity-of-hippocampal-ca1-neuronal-ensembles-in-a-mouse-model-of-down-syndrome-assayed-by-arc-expression
#17
Constance L Smith-Hicks, Peiling Cai, Alena V Savonenko, Roger H Reeves, Paul F Worley
Down syndrome (DS) is the leading chromosomal cause of intellectual disability, yet the neural substrates of learning and memory deficits remain poorly understood. Here, we interrogate neural networks linked to learning and memory in a well-characterized model of DS, the Ts65Dn mouse. We report that Ts65Dn mice exhibit exploratory behavior that is not different from littermate wild-type (WT) controls yet behavioral activation of Arc mRNA transcription in pyramidal neurons of the CA1 region of the hippocampus is altered in Ts65Dn mice...
2017: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/28215540/decreased-glucagon-like-peptide-1-correlates-with-abdominal-pain-in-patients-with-constipation-predominant-irritable-bowel-syndrome
#18
Zheng-Yang Li, Na Zhang, Shuang Wen, Jing Zhang, Xiu-Li Sun, Xiao-Ming Fan, Yong-Hong Sun
BACKGROUND AND OBJECTIVE: The glucagon-like peptide-1 (GLP-1) analog, ROSE-010, plays a critical role in alleviating abdominal pain in patients with irritable bowel syndrome (IBS); however, the underling mechanism is unclear. In the present study, we determined the serum GLP-1 level in patients with constipation-predominant IBS (IBS-C). The relationship between GLP-1 and abdominal pain was investigated. In addition, the expression of the GLP-1 receptor in the colon was determined. METHODS: Rectosigmoid biopsies were gathered from 38 patients with IBS-C who met the Rome III criteria, and 22 healthy controls...
February 16, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28215527/chromosome-wise-protein-interaction-patterns-and-their-impact-on-functional-implications-of-large-scale-genomic-aberrations
#19
Isa Kristina Kirk, Nils Weinhold, Kirstine Belling, Niels Erik Skakkebæk, Thomas Skøt Jensen, Henrik Leffers, Anders Juul, Søren Brunak
Gene copy-number changes influence phenotypes through gene-dosage alteration and subsequent changes of protein complex stoichiometry. Human trisomies where gene copy numbers are increased uniformly over entire chromosomes provide generic cases for studying these relationships. In most trisomies, gene and protein level alterations have fatal consequences. We used genome-wide protein-protein interaction data to identify chromosome-specific patterns of protein interactions. We found that some chromosomes encode proteins that interact infrequently with each other, chromosome 21 in particular...
February 14, 2017: Cell Systems
https://www.readbyqxmd.com/read/28215510/short-term-treatment-with-flumazenil-restores-long-term-object-memory-in-a-mouse-model-of-down-syndrome
#20
Damien Colas, Bayarsaikhan Chuluun, Craig C Garner, H Craig Heller
Down syndrome (DS) is a common genetic cause of intellectual disability yet no pro-cognitive drug therapies are approved for human use. Mechanistic studies in a mouse model of DS (Ts65Dn mice) demonstrate that impaired cognitive function is due to excessive neuronal inhibitory tone. These deficits are normalized by chronic, short-term low doses of GABAA receptor (GABAAR) antagonists in adult animals, but none of the compounds investigated are approved for human use. We explored the therapeutic potential of flumazenil (FLUM), a GABAAR antagonist working at the benzodiazepine binding site that has FDA approval...
February 12, 2017: Neurobiology of Learning and Memory
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