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https://www.readbyqxmd.com/read/28346765/the-medial-temporal-memory-system-in-down-syndrome-translating-animal-models-of-hippocampal-compromise
#1
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 serial 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
https://www.readbyqxmd.com/read/28346011/various-plus-unique-viral-protein-u-as-a-plurifunctional-protein-for-hiv-1-replication
#2
Andrew Soper, Guillermo Juarez-Fernandez, Hirofumi Aso, Miyu Moriwaki, Eri Yamada, Yusuke Nakano, Yoshio Koyanagi, Kei Sato
Human immunodeficiency virus type 1 (HIV-1), the causative agent of acquired immunodeficiency syndrome, encodes four accessory genes, one of which is viral protein U (Vpu). Recently, the study of Vpu has been of great interest. For instance, various cellular proteins are degraded (e.g. CD4) and down-modulated (e.g. tetherin) by Vpu. Vpu also antagonizes the function of tetherin and inhibits NF-κB. Moreover, Vpu is a viroporin forming ion channels and may represent a promising target for anti-HIV-1 drugs. In this review, we summarize the domains/residues that are responsible for Vpu's functions, describe the current understanding of the role of Vpu in HIV-1-infected cells, and review the effect of Vpu on HIV-1 in replication and pathogenesis...
April 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28342823/evidence-that-increased-kcnj6-gene-dose-is-necessary-for-deficits-in-behavior-and-dentate-gyrus-synaptic-plasticity-in-the-ts65dn-mouse-model-of-down-syndrome
#3
Alexander M Kleschevnikov, Jessica Yu, Jeesun Kim, Larisa V Lysenko, Zheng Zhen, Y Eugene Yu, William C Mobley
Down syndrome (DS), trisomy 21, is caused by increased dose of genes present on human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the dose of individual genes or regulatory sequences on HSA21 is necessary for creating DS-related phenotypes, including cognitive impairment. We focused on a possible role for Kcnj6, the gene encoding Kir3.2 (Girk2) subunits of a G-protein-coupled inwardly-rectifying potassium channel. This gene resides on a segment of mouse Chromosome 16 that is present in one extra copy in the genome of the Ts65Dn mouse, a well-studied genetic model of DS...
March 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28340928/the-difficult-gall-bladder-outcomes-following-laparoscopic-cholecystectomy-and-the-need-for-open-conversion
#4
A Ashfaq, K Ahmadieh, A A Shah, A B Chapital, K L Harold, D J Johnson
INTRODUCTION: Surgery for the difficult gallbladder (DGB) is associated with increased risk compared to more routine laparoscopic cholecystectomies (LC). Laparoscopic "damage control" methods including cholecystostomy, fundus-down approach and subtotal cholecystectomy (SC) have been proposed to avoid conversion to open. We hypothesized that a Total LC (TLC) for DBG can be completed safely with an acceptably low conversion rate. MATERIAL AND METHODS: All patients that underwent LC from January 2005-June 2015 were retrospectively reviewed...
December 2016: American Journal of Surgery
https://www.readbyqxmd.com/read/28339495/microrna-expression-profiles-identify-disease-specific-alterations-in-systemic-lupus-erythematosus-and-primary-sj%C3%A3-gren-s-syndrome
#5
Ji-Qing Chen, Gábor Papp, Szilárd Póliska, Krisztina Szabó, Tünde Tarr, Bálint László Bálint, Péter Szodoray, Margit Zeher
The discovery of microRNAs (miRNAs) and their critical role in genetic control opened new avenues in understanding of various biological processes including immune cell lineage commitment, differentiation, proliferation and apoptosis. However, a given miRNA may have hundreds of different mRNA targets and a target might be regulated by multiple miRNAs, thus the characterisation of dysregulated miRNA expression profiles could give a better insight into the development of immunological disturbances in autoimmune diseases...
2017: PloS One
https://www.readbyqxmd.com/read/28337819/pai-1-in-granulosa-cells-is-suppressed-directly-by-statin-and-indirectly-by-suppressing-tgf-%C3%AE-and-tnf-%C3%AE-in-mononuclear-cells-by-insulin-sensitizing-drugs
#6
Kaori Yamada-Nomoto, Osamu Yoshino, Ikumi Akiyama, Akira Iwase, Yosuke Ono, Tomoko Nakamura, Miyuki Harada, Akitoshi Nakashima, Tomoko Shima, Akemi Ushijima, Yutaka Osuga, Russell Jeffrey Chang, Shunichi Shimasaki, Shigeru Saito
PROBLEM: Plasminogen activator inhibitor-1 (PAI-1) is elevated in women with polycystic ovary syndrome (PCOS), but the regulation in granulosa cells (GCs) is unclear. METHOD OF STUDY: PAI-1 expression in PCOS ovaries was investigated immunohistologically. PAI-1 expressions in HGrC1, a human GC cell line, were investigated at mRNA and activity levels. The expressions of TGF-β and TNF-α in peritoneal fluid mononuclear cells (PFMCs) were measured with quantitative PCR...
March 24, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28337630/erratum-to-differential-brain-cognitive-and-motor-profiles-associated-with-partial-trisomy-modeling-down-syndrome-in-mice
#7
Pierre L Roubertoux, Nathalie Baril, Pierre Cau, Christophe Scajola, Adeline Ghata, Catherine Bartoli, Patrice Bourgeois, Julie di Christofaro, Sylvie Tordjman, Michèle Carlier
No abstract text is available yet for this article.
March 23, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28337123/analysis-of-the-serotonergic-system-in-a-mouse-model-of-rett-syndrome-reveals-unusual-upregulation-of-serotonin-receptor-5b
#8
Steffen Vogelgesang, Sabine Niebert, Ute Renner, Wiebke Möbius, Swen Hülsmann, Till Manzke, Marcus Niebert
Mutations in the transcription factor methyl-CpG-binding-protein 2 (MeCP2) cause a delayed-onset neurodevelopmental disorder known as Rett syndrome (RTT). Although alteration in serotonin levels have been reported in RTT patients, the molecular mechanisms underlying these defects are not well understood. Therefore, we chose to investigate the serotonergic system in hippocampus and brainstem of male Mecp2(-/y) knock-out mice in the B6.129P2(C)-Mecp2(tm1.1Bird) mouse model of RTT. The serotonergic system in mouse is comprised of 16 genes, whose mRNA expression profile was analyzed by quantitative RT-PCR...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28336394/ts1cje-down-syndrome-model-mice-exhibit-environmental-stimuli-triggered-locomotor-hyperactivity-and-sociability-concurrent-with-increased-flux-through-central-dopamine-and-serotonin-metabolism
#9
Atsushi Shimohata, Keiichi Ishihara, Satoko Hattori, Hiroyuki Miyamoto, Hiromasa Morishita, Guy Ornthanalai, Matthieu Raveau, Abdul Shukkur Ebrahim, Kenji Amano, Kazuyuki Yamada, Haruhiko Sago, Satoshi Akiba, Nobuko Mataga, Niall P Murphy, Tsuyoshi Miyakawa, Kazuhiro Yamakawa
Ts1Cje mice have a segmental trisomy of chromosome 16 that is orthologous to human chromosome 21 and display Down syndrome-like cognitive impairments. Despite the occurrence of affective and emotional impairments in patients with Down syndrome, these parameters are poorly documented in Down syndrome mouse models, including Ts1Cje mice. Here, we conducted comprehensive behavioral analyses, including anxiety-, sociability-, and depression-related tasks, and biochemical analyses of monoamines and their metabolites in Ts1Cje mice...
March 20, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28336152/development-of-hypomelanotic-macules-is-associated-with-constitutive-activated-mtorc1-in-tuberous-sclerosis-complex
#10
Lisbeth Birk Møller, Bitten Schönewolf-Greulich, Thomas Rosengren, Lasse Jonsgaard Larsen, John R Ostergaard, Mette Sommerlund, Caroline Ostenfeldt, Brian Stausbøl-Grøn, Karen Markussen Linnet, Pernille Axél Gregersen, Uffe Birk Jensen
TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations. The disease segregates with a silent substitution in TSC2, c.4149C>T, p.(Ser1838Ser), which leads to the formation of an active donor splice site, resulting in three shorter alternatively spliced transcripts with premature stop codons. However a small amount of normal spliced transcript is apparently produced from the mutated allele, which might explain the milder phenotype...
March 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28335382/feasibility%C3%A2-of%C3%A2-assessing%C3%A2-diet%C3%A2-with%C3%A2-a%C3%A2-mobile%C3%A2-food%C3%A2-record%C3%A2-for%C3%A2-adolescents%C3%A2-and%C3%A2-young%C3%A2-adults%C3%A2-with%C3%A2-down%C3%A2-syndrome
#11
Katherine E Bathgate, Jill L Sherriff, Helen Leonard, Satvinder S Dhaliwal, Edward J Delp, Carol J Boushey, Deborah A Kerr
Technology-based methods for assessing diet in those with disability remains largely unexplored. The aim was to assess the feasibility of assessing diet with an image-based mobile food record application (mFR) in 51 adolescents and young adults with Down syndrome (PANDs). Adherence was also assessed with the instruction to include a fiducial marker object in the before and after eating images. The PANDs sample completed a four-day mFR and results were compared with a sample of young adults from the Connecting Health and Technology study (CHAT, n = 244)...
March 13, 2017: Nutrients
https://www.readbyqxmd.com/read/28333487/adaptation-of-the-arizona-cognitive-task-battery-for-use-with-the-ts65dn-mouse-model-mus-musculus-of-down-syndrome
#12
Michael R Hunsaker, Genevieve K Smith, Raymond P Kesner
We propose and validate a clear strategy to efficiently and comprehensively characterize neurobehavioral deficits in the Ts65Dn mouse model of Down syndrome. This novel approach uses neurocognitive theory to design and select behavioral tasks that test specific hypotheses concerning the results of Down syndrome. In this article, we model the Arizona Cognitive Task Battery, used to study human populations with Down syndrome, in Ts65Dn mice. We observed specific deficits for spatial memory, impaired long-term memory for visual objects, acquisition and reversal of motor responses, reduced motor dexterity, and impaired adaptive function as measured by nesting and anxiety tasks...
March 23, 2017: Journal of Comparative Psychology
https://www.readbyqxmd.com/read/28332275/thyroid-dysfunction-in-patients-with-down-syndrome-results-from-a-multi-institutional-registry-study
#13
Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, Blythe Crissman, Emily Davidson, Jose C Florez, Priya Kishnani, Angela Lombardo, Jordan Lyerly, Mary Ellen McDonough, Alison Schwartz, Kathryn Berrier, Susan Sparks, Kara Stock-Guild, Tomi L Toler, Kishore Vellody, Lauren Voelz, Brian G Skotko
The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28331226/the-histone-deacetylase-inhibitor-givinostat-itf2357-exhibits-potent-anti-tumor-activity-against-crlf2-rearranged-bcp-all
#14
A M Savino, J Sarno, L Trentin, M Vieri, G Fazio, M Bardini, C Bugarin, G Fossati, K Davis, G Gaipa, S Izraeli, L H Meyer, G P Nolan, A Biondi, G Te Kronnie, C Palmi, G Cazzaniga
Leukemias bearing CRLF2 and JAK2 gene alterations are characterized by aberrant JAK/STAT signaling and poor prognosis. The HDAC inhibitor givinostat/ITF2357 has been shown to exert antineoplastic activity against both systemic juvenile idiopathic arthritis and myeloproliferative neoplasms through inhibition of the JAK/STAT pathway. These findings led us to hypothesize that givinostat might also act against CRLF2-rearranged BCP-ALL, which lack effective therapies. Here, we found that givinostat inhibited proliferation and induced apoptosis of BCP-ALL CRLF2-rearranged cell lines, positive for exon 16 JAK2 mutations...
March 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28331058/slga-the-homologue-of-the-human-schizophrenia-associated-prodh-gene-acts-in-clock-neurons-to-regulate-drosophila-aggression
#15
Liesbeth Zwarts, Veerle Vulsteke, Edgar Buhl, James J L Hodge, Patrick Callaerts
Mutations in proline dehydrogenase (PRODH) are linked to behavioral alterations in schizophrenia and as part of DiGeorge and velo-cardio-facial syndromes, but the role of PRODH in their etiology remains unclear. We here establish a Drosophila model to study the role of PRODH in behavioral disorders. We determine the distribution of the Drosophila PRODH homolog slgA in the brain and show that knock-down and overexpression of human PRODH and slgA in the lateral neurons ventral (LNv) lead to altered aggressive behavior...
March 22, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28330812/molecular-evidence-for-differential-long-term-outcomes-of-early-life-severe-acute-malnutrition
#16
Allan Sheppard, Sherry Ngo, Xiaoling Li, Michael Boyne, Debbie Thompson, Anthony Pleasants, Peter Gluckman, Terrence Forrester
BACKGROUND: Severe acute malnutrition (SAM) in infants may present as one of two distinct syndromic forms: non-edematous (marasmus), with severe wasting and no nutritional edema; or edematous (kwashiorkor) with moderately severe wasting. These differences may be related to developmental changes prior to the exposure to SAM and phenotypic changes appear to persist into adulthood with differences between the two groups. We examined whether the different response to SAM and subsequent trajectories may be explained by developmentally-induced epigenetic differences...
March 8, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28329909/testing-the-boundaries-of-boundary-extension-anticipatory-scene-representation-across-development-and-disorder
#17
G Spanò, H Intraub, J O Edgin
Recent studies have suggested that Boundary Extension (BE), a scene construction error, may be linked to the function of the hippocampus. In this study, we tested BE in two groups with variations in hippocampal development and disorder: a typically developing sample ranging from preschool to adolescence and individuals with Down syndrome. We assessed BE across three different test modalities: drawing, visual recognition, and a 3D scene boundary reconstruction task. Despite confirmed fluctuations in memory function measured through a neuropsychological assessment, the results showed consistent BE in all groups across test modalities, confirming the near universal nature of BE...
March 22, 2017: Hippocampus
https://www.readbyqxmd.com/read/28329817/early-life-benzo-a-pyrene-exposure-causes-neurodegenerative-syndromes-in-adult-zebrafish-danio-rerio-and-the-mechanism-involved
#18
Dongxu Gao, Chonggang Wang, Zhihui Xi, Yixi Zhou, Yuanchuan Wang, Zhenghong Zuo
There is increasing recognition of the importance of early-life environmental exposures in health disorders at later-life stages. The aim of this study was to evaluate whether early-life exposure to benzo[a]pyrene (BaP) could induce neurodegenerative syndromes at later-life stages in zebrafish. Embryos were exposed to BaP at doses of 0, 0.05, 0.5, 5, and 50 nM from early embryogenesis to 96 h post-fertilization (hpf), then transferred to clean water and maintained for 365 days. We found that BaP decreased locomotor and cognitive ability, neurotransmitter levels of dopamine, 3,4-dihydroxyphenylacetic acid and norepinephrine; and induced loss of dopaminergic neurons and resulted in neurodegeneration...
January 30, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28328700/lumbar-tactile-acuity-in-patients-with-low-back-pain-and-healthy-controls-systematic-review-and-meta-analysis
#19
Wacław Adamczyk, Kerstin Luedtke, Edward Saulicz
OBJECTIVE: Diminished tactile acuity in chronic non-neuropathic pain syndromes has been attributed to central pain processing and cortical reorganization. The latter was recently targeted in clinical trials that demonstrated no clear advantages over traditional approaches for the reduction of nonspecific low back pain (LBP). The aim of this systematic review and meta-analysis was to summarize the current evidence on tactile acuity in LBP and pain-free controls. METHODS: Six databases were independently searched by 2 researchers...
March 21, 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28328560/surgical-treatment-of-congenital-and-obligatory-dislocation-of-the-patella-in-children
#20
Ronen Sever, Michael Fishkin, Yoram Hemo, Shlomo Wientroub, Moshe Yaniv
BACKGROUND: Congenital (fixed) dislocations and obligatory (habitual) patellar dislocations represent a complex clinical and surgical challenge. Numerous treatment options, offering different perspectives, and surgical solutions are reported in the literature.We implemented the surgical technique principles, originally described by Stanisavljevic, for congenital (fixed) and obligatory (habitual) patellar dislocations, with slight modifications. METHODS: We retrospectively evaluated the results of group of 12 patients (15 knees), operated between the years 2002 and 2013...
March 21, 2017: Journal of Pediatric Orthopedics
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