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Downs syndrome

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https://www.readbyqxmd.com/read/28726593/validation-and-normalization-of-the-tower-of-london-drexel-university-test-2nd-edition-in-an-adult-population-with-intellectual-disability
#1
Javier García-Alba, Susanna Esteba-Castillo, Miguel Ángel Castellanos López, Emili Rodríguez Hidalgo, Nuria Ribas Vidal, Fernando Moldenhauer Díaz, Ramón Novell-Alsina
Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study's primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Subjects (n = 63, ≥ 39 years old) had DS with mild (n = 39) or moderate ID (n = 24) with no minor neurocognitive disorder or Alzheimer's disease...
July 20, 2017: Spanish Journal of Psychology
https://www.readbyqxmd.com/read/28726285/a-cross-sectional-analysis-of-executive-function-in-down-syndrome-from-2-to-35%C3%A2-years
#2
S J Loveall, F A Conners, A S Tungate, L J Hahn, T D Osso
BACKGROUND: Previous research has indicated a unique profile of executive function (EF) in children and adolescents with Down syndrome (DS). However, there is a paucity of research on EF in adults with DS. This study aimed to gain a broader understanding of strengths and weaknesses in EF in DS from 2 to 35 years. METHOD: Parents of 112 individuals with DS between 2 and 35 years participated in this study. Parents either completed the Behaviour Rating Inventory of Executive Function - for individuals 6+ years - or the Behaviour Rating Inventory of Executive Function Preschool Version - for children 2-5 years...
July 20, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28725291/relationship-between-normal-tension-glaucoma-and-flammer-syndrome
#3
Katarzyna Konieczka, Hyuk Jin Choi, Simone Koch, Franz Fankhauser, Andreas Schoetzau, Dong Myung Kim
BACKGROUND: Besides intraocular pressure, vascular factors play a role in the pathogenesis of glaucomatous optic neuropathy. One of these potential vascular factors is Flammer syndrome. The purpose of the present study was to determine in a Korean population whether signs and symptoms of Flammer syndrome occur more often in normal tension glaucoma patients than in control subjects. METHODS: Two hundred forty-six normal tension glaucoma patients and 1116 control subjects responded to a multiple-choice questionnaire asking about 15 signs and symptoms of Flammer syndrome...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28724884/effects-of-zinc-finger-protein-a20-on-lipopolysaccharide-lps-induced-pulmonary-inflammation-anti-inflammatory-mediators-in-an-acute-lung-injury-acute-respiratory-distress-syndrome-rat-model
#4
Ding-Qian Wu, Hong-Bo Wu, Mao Zhang, Jian-An Wang
BACKGROUND The aim of this study was to investigate the effects of zinc finger protein A20 on lipopolysaccharide (LPS)-induced pulmonary inflammation/anti-inflammatory mediators in an acute lung injury/acute respiratory distress syndrome (ALI/ARDS) rat model. MATERIAL AND METHODS Forty-eight ALI/ARDS rats were selected and assigned into normal saline (NS) (injected with NS), LPS (injected with LPS), LPS-C1 (injected with pEGFP-C1, NS and LPS), and A20 groups (injected with pEGFP-C1-A20, NS, and LPS). The wet/dry (W/D) ratio of rat lung tissues and total protein concentration and the number of neutrophils in bronchoalveolar lavage fluid (BALF) were detected...
July 20, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28724324/strong-impact-of-ethnicity-on-effectiveness-of-the-first-trimester-maternal-serum-screen-of-fetal-down-syndrome
#5
Thitikarn Lerthiranwong, Chanane Wanapirak, Supatra Sirichotiyakul, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Theera Tongsong
OBJECTIVES: To compare the effectiveness of first trimester maternal serum screening (MSS) for fetal Down syndrome among Thai women between the method using Caucasian reference ranges with racial factor correction (CRR-RC) and that using Thai reference ranges (TRR). METHODS: A prospective database of MSS was accessed. The levels of PAPP-A and beta-hCG were calculated to determine their MoMs (multiple of medians) by two methods: 1) CRR-RC for Asian women and 2) TRR...
July 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28720894/coronavirus-nucleocapsid-proteins-assemble-constitutively-in-high-molecular-oligomers
#6
Yingying Cong, Franziska Kriegenburg, Cornelis A M de Haan, Fulvio Reggiori
Coronaviruses (CoV) are enveloped viruses and rely on their nucleocapsid N protein to incorporate the positive-stranded genomic RNA into the virions. CoV N proteins form oligomers but the mechanism and relevance underlying their multimerization remain to be fully understood. Using in vitro pull-down experiments and density glycerol gradients, we found that at least 3 regions distributed over its entire length mediate the self-interaction of mouse hepatitis virus (MHV) and severe acute respiratory syndrome coronavirus (SARS-CoV) N protein...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720071/developmental-expression-and-dysregulation-of-mir-146a-and-mir-155-in-down-s-syndrome-and-mouse-models-of-down-s-syndrome-and-alzheimer-s-disease
#7
A Arena, A M Iyer, I Milenkovic, G G Kovács, I Ferrer, M Perluigi, E Aronica
miR-146a and miR-155 are key regulators of the innate immune response. We hypothesized that an inflammation-mediated dysregulation of these miRNAs may occur in patients with Down syndrome (DS) and Alzheimer's disease (AD). The miRNA expression patterns were investigated by in situ hybridization in developing hippocampus from controls, patients with DS and in adults with AD pathology (DS and sporadic AD; sAD). quantitative real-time PCR was employed to evaluate the miRNA levels in the hippocampus of sAD and in mouse models of DS and AD...
July 6, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28717969/decreasing-the-expression-of-gabaa-%C3%AE-5-subunit-containing-receptors-partially-improves-cognitive-electrophysiological-and-morphological-hippocampal-defects-in-the-ts65dn-model-of-down-syndrome
#8
Verónica Vidal, Susana García-Cerro, Paula Martínez, Andrea Corrales, Sara Lantigua, Rebeca Vidal, Noemí Rueda, Laurence Ozmen, Maria-Clemencia Hernández, Carmen Martínez-Cué
Trisomy 21 or Down syndrome (DS) is the most common cause of intellectual disability of a genetic origin. The Ts65Dn (TS) mouse, which is the most commonly used and best-characterized mouse model of DS, displays many of the cognitive, neuromorphological, and biochemical anomalies that are found in the human condition. One of the mechanisms that have been proposed to be responsible for the cognitive deficits in this mouse model is impaired GABA-mediated inhibition. Because of the well-known modulatory role of GABAA α5 subunit-containing receptors in cognitive processes, these receptors are considered to be potential targets for improving the intellectual disability in DS...
July 17, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28717962/comparative-proteome-analysis-for-identification-of-differentially-abundant-proteins-in-sids
#9
Noha El-Kashef, Iva Gomes, Katja Mercer-Chalmers-Bender, Peter M Schneider, Markus A Rothschild, Martin Juebner
Sudden infant death syndrome (SIDS) remains one of the most common causes of post-neonatal infant mortality in developed countries. Its pathogenesis is still poorly understood. The goal of the present study was to characterize changes in the proteome of SIDS compared to age-matched controls in heart and medulla tissues as well as in blood samples using two complementary quantitative proteomic techniques: 2D-DIGE and iTRAQ aiming to provide new insights into the mechanism of SIDS and to find diagnostic protein patterns...
July 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28717104/dexamethasone-induced-hepatomegaly-and-steatosis-in-larval-zebrafish
#10
Guojun Yin, Liping Cao, Jinliang Du, Rui Jia, Takio Kitazawa, Akira Kubota, Hiroki Teraoka
Fish hepatobiliary syndrome, characterized by hepatomegaly and fatty liver, has been frequently reported in many cultured fish species and has caused a dramatic economic loss in China. Glucocorticoids are thought to be important non-nutritional factors for hepatomegaly and fatty liver development. In the present study, a dexamethasone-induced zebrafish model of fatty liver and hepatomegaly was established, and the role of glucocorticoid receptor (GR) in the development of hepatomegaly and fatty liver was investigated using developing zebrafish...
2017: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/28715807/amniotic-fluid-angiogenic-and-inflammatory-factor-profiling-in-foetal-down-syndrome
#11
Monika Zbucka-Kretowska, Karol Charkiewicz, Jan Czerniecki, Joanna Goscik, Slawomir Wolczynski, Piotr Laudanski
OBJECTIVES: Angiogenic factors are proteins that can potentially be related to certain foetal chromosomal abnormalities. The goal of this study was to determine the concentrations of 60 angiogenic factors in the amniotic fluid of women carrying foetuses with Down syndrome (DS). METHODS: After analysis of the karyotyping results, for the purpose of this study, we chose 12 women with foetal DS. For the control group, we selected 12 healthy patients with uncomplicated pregnancies (15-18 weeks of gestation) who delivered healthy newborns at term...
July 15, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28715661/cognitive-decline-and-brain-amyloid-%C3%AE-accumulation-across-3-years-in-adults-with-down-syndrome
#12
Sigan L Hartley, Benjamin L Handen, Darlynne Devenny, Iulia Mihaila, Regina Hardison, Patrick J Lao, William E Klunk, Peter Bulova, Sterling C Johnson, Bradley T Christian
Adults with Down syndrome (DS) have a high incidence of Alzheimer's disease (AD), providing a unique opportunity to explore the early, preclinical stages of AD neuropathology. We examined change in brain amyloid-β accumulation via the positron emission tomography tracer [11C] Pittsburgh compound B (PiB) across 2 data collection cycles, spaced 3 years apart, and decline in cognitive functioning in 58 adults with DS without clinical AD. PiB retention increased in the anterior cingulate gyrus, precuneus cortex, parietal cortex, and anterior ventral striatum...
June 2, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28715416/signatures-of-inflammation-and-impending-multiple-organ-dysfunction-in-the-hyperacute-phase-of-trauma-a-prospective-cohort-study
#13
Claudia P Cabrera, Joanna Manson, Joanna M Shepherd, Hew D Torrance, David Watson, M Paula Longhi, Mimoza Hoti, Minal B Patel, Michael O'Dwyer, Sussan Nourshargh, Daniel J Pennington, Michael R Barnes, Karim Brohi
BACKGROUND: Severe trauma induces a widespread response of the immune system. This "genomic storm" can lead to poor outcomes, including Multiple Organ Dysfunction Syndrome (MODS). MODS carries a high mortality and morbidity rate and adversely affects long-term health outcomes. Contemporary management of MODS is entirely supportive, and no specific therapeutics have been shown to be effective in reducing incidence or severity. The pathogenesis of MODS remains unclear, and several models are proposed, such as excessive inflammation, a second-hit insult, or an imbalance between pro- and anti-inflammatory pathways...
July 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28712774/characterization-of-nphs2-gene-polymorphisms-associated-to-steroid-resistance-nephrotic-syndrome-in-indian-children
#14
Bhoomi B Joshi, Kinnari N Mistry, Sishir Gang, Prakash G Koringa, Chaitanya G Joshi
Nephrotic syndrome (NS) is the common glomerular disease in children. These children are treated with steroids, depending upon their behavior. They are either steroid sensitive (SSNS) or steroid resistant (SRNS). NPHS2 gene mutants are linked to the risk of autosomal recessive SRNS and in some cases to SSNS. The present study has been performed to screen single nucleotide polymorphisms (SNPs) of the NPHS2 gene in a group of 90 Indian children suffering with NS (30 SSNS, 30 SRNS and 30 Controls) by PCR method followed by direct exon sequencing...
July 13, 2017: Gene
https://www.readbyqxmd.com/read/28712302/overcoming-the-hydrolytic-lability-of-a-reaction-intermediate-in-production-of-protein-drug-conjugates-conjugation-of-an-acyclic-nucleoside-phosphonate-to-a-model-carrier-protein
#15
Shengsheng Xu, Igor A Kaltashov
Acquired immunodeficiency syndrome (AIDS) remains one of the most serious public health challenges and a significant cause of mortality for certain populations. Despite the large number of antiretrovirals developed in the past two decades, the inability of small molecule therapeutics to target HIV reservoirs directly creates a significant obstacle to their effective utilization. Indeed, achieving the desired therapeutic outcome in the absence of an effective means of targeted delivery must rely on dosage escalation, which frequently causes severe toxicity...
July 17, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28711765/functional-magnetic-resonance-imaging-response-as-an-early-biomarker-of-cognitive-decline-in-elderly-patients-with-metabolic-syndrome
#16
Nadia Shigaeff, Edson Amaro, Fabio G M Franco, Alessandro F Jacinto, Gabriela Chiochetta, Maysa S Cendoroglo, Vanessa A Citero
OBJECTIVES: We assessed whether potential changes in brain activation patterns of elderly individuals with metabolic syndrome (MetS) who were cognitively healthy (without mild cognitive impairment or dementia) were associated with cognitive decline in executive function in the short-term. METHOD: We analyzed 43 individuals (23 MetS, 20 controls) using a global geriatric evaluation, a neuropsychological battery, and task-related (attention) fMRI exam. Correlation analysis between the fMRI signal at baseline and cognitive impairment after 1year was based on the voxel-based Pearson coefficient, corrected for multiple comparisons...
July 8, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28709588/postural-disorders-in-mouth-breathing-children-a-systematic-review
#17
REVIEW
Patricia Dayrell Neiva, Renata Noce Kirkwood, Polyana Leite Mendes, Karl Zabjek, Helena Gonçalves Becker, Sunita Mathur
BACKGROUND: Mouth breathing syndrome can cause sleep disturbances that compromise the performance of children in school. It might also cause postural abnormalities involving the head and cervical spine; however, the association between postural abnormalities and mouth breathing in children is unclear. OBJECTIVE: To assess the methodological quality of studies and determine if there is an association between mouth breathing and postural disorders in children. METHODS: Databases comprised MEDLINE, CINAHL, PEDro, LILACS, EMBASE and Cochrane Central Registrar of Controlled Trials...
July 5, 2017: Brazilian Journal of Physical Therapy
https://www.readbyqxmd.com/read/28705861/myeloid-leukemia-associated-with-down-syndrome
#18
Caroline E Talsma, Daniel F Boyer
No abstract text is available yet for this article.
July 13, 2017: Blood
https://www.readbyqxmd.com/read/28705723/a-pacifastacus-leniusculus-serine-protease-interacts-with-wssv
#19
Enen Guo, Gül Gizem Korkut, Phattarunda Jaree, Irene Söderhäll, Kenneth Söderhäll
Serine proteases are involved in many critical physiological processes including virus spread and replication. In the present study, we identified a new clip-domain serine protease (PlcSP) in the crayfish Pacifastacus leniusculus hemocytes, which can interact with the White Spot Syndrome Virus (WSSV) envelope protein VP28. It was characterized by a classic clip domain with six strictly conserved Cys residues, and contained the conserved His-Asp-Ser (H-D-S) motif in the catalytic domain. Furthermore, signal peptide prediction revealed that it has a 16-residue secretion signal peptide...
July 10, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28705658/disturbance-of-redox-homeostasis-in-down-syndrome-role-of-iron-dysmetabolism
#20
REVIEW
Eugenio Barone, Andrea Arena, Elizabeth Head, D Allan Butterfield, Marzia Perluigi
Down syndrome (DS) is the most common genetic form of intellectual disability that leads in the majority of cases to development of early-onset Alzheimer-like dementia (AD). The neuropathology of DS has several common features with AD including alteration of redox homeostasis, mitochondrial deficits, and inflammation among others. Interestingly, some of the genes encoded by chromosome 21 are responsible of increased oxidative stress (OS) conditions that are further exacerbated by decreased antioxidant defense...
July 10, 2017: Free Radical Biology & Medicine
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