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DOWN DOWN's SYNDROME

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https://www.readbyqxmd.com/read/28650388/everolimus-effect-on-gastrin-and-glucagon-in-pancreatic-neuroendocrine-tumors
#1
Marianne E Pavel, David Chen, Wei He, Stephanie Cushman, Maurizio Voi, Elisabeth G E de Vries, Eric Baudin, James C Yao
OBJECTIVES: The pharmacodynamic effects of everolimus on gastrointestinal hormone levels have not been described in patients with pancreatic neuroendocrine tumors (pNETs). We report the effects of everolimus on gastrin and glucagon levels in patients with progressive pNET in RADIANT-1 (a single-arm phase II trial) and RADIANT-3 (a placebo-controlled, randomized, phase III trial). METHODS: Serum gastrin and glucagon levels were determined by immunoassay at baseline and at predose in subsequent treatment cycles in patients with elevated baseline hormone levels...
June 22, 2017: Pancreas
https://www.readbyqxmd.com/read/28650250/a-retrospective-longitudinal-claims-based-comparison-of-concomitant-diagnoses-between-individuals-with-and-without-down-syndrome
#2
Amanda M Kong, Dana Hurley, Kristin A Evans, Diana Brixner, Csilla Csoboth, Jeannie Visootsak
BACKGROUND: Individuals with Down syndrome (DS) experience various comorbidities in excess of the prevalence seen among the non-DS population. However, the extent of the excess burden of comorbidities specifically within commercially and publicly insured DS populations aged < 21 years is not currently known. OBJECTIVES: To (a) describe the most common diagnoses among individuals with DS who have either commercial or Medicaid insurance and (b) compare the prevalence of those diagnoses between DS cases and non-DS controls...
July 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28649640/mri-derived-diffusion-parameters-in-the-human-optic-nerve-and-its-surrounding-sheath-during-head-down-tilt
#3
Darius A Gerlach, Karina Marshall-Goebel, Khader M Hasan, Larry A Kramer, Noam Alperin, Joern Rittweger
More than half of astronauts present with significant neuro-ophthalmic findings during 6-month missions onboard the International Space Station. Although the underlying cause of this Microgravity Ocular Syndrome is currently unknown, alterations in cerebrospinal fluid dynamics within the optic nerve sheath may play a role. In the presented study, diffusion tensor imaging was used to assess changes in diffusivity of the optic nerve and its surrounding sheath during head-down tilt, a ground-based model of microgravity...
2017: NPJ Microgravity
https://www.readbyqxmd.com/read/28649249/dscam1-in-pancrustacean-immunity-current-status-and-a-look-to-the-future
#4
Sophie A O Armitage, Joachim Kurtz, Daniela Brites, Yuemei Dong, Louis Du Pasquier, Han-Ching Wang
The Down syndrome cell adhesion molecule 1 (Dscam1) gene is an extraordinary example of diversity: by combining alternatively spliced exons, thousands of isoforms can be produced from just one gene. So far, such diversity in this gene has only been found in insects and crustaceans, and its essential part in neural wiring has been well-characterized for Drosophila melanogaster. Ten years ago evidence from D. melanogaster showed that the Dscam1 gene is involved in insect immune defense and work on Anopheles gambiae indicated that it is a hypervariable immune receptor...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28649192/deleterious-effects-of-chronic-folate-deficiency-in-the-ts65dn-mouse-model-of-down-syndrome
#5
Susan Helm, Morgan Blayney, Taylor Whited, Mahjabin Noroozi, Sen Lin, Semira Kern, David Green, Ahmad Salehi
Folate is an important B vitamin naturally found in the human diet and plays a critical role in methylation of nucleic acids. Indeed, abnormalities in this major epigenetic mechanism play a pivotal role in the pathogenesis of cognitive deficit and intellectual disability in humans. The most common cause of cognitive dysfunction in children is Down syndrome (DS). Since folate deficiency is very common among the pediatric population, we questioned whether chronic folate deficiency (CFD) exacerbates cognitive dysfunction in a mouse model of DS...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28648849/cellular-dead-box-rna-helicase-18-ddx18-promotes-the-prrsv-replication-via-interaction-with-virus-nsp2-and-nsp10
#6
Huan Jin, Lei Zhou, Xinna Ge, Han Zhang, Ruimin Zhang, Cong Wang, Li Wang, Zhibang Zhang, Hanchun Yang, Xin Guo
Porcine reproductive and respiratory syndrome virus (PRRSV) is an aetiological agent that can lead to reproductive failure and respiratory diseases of pigs. The replication and pathogenesis of PRRSV, although poorly understood, has been associated with the host factors. DDX18 is a member of DEAD-box RNA helicases (DDXs) family which were proved to participate in viral replication. Previously, we found the DDX18 interacts with both nsp2 and nsp10 of PRRSV by Co-Immunoprecipitation (Co-IP). In the present study, we demonstrated the interactions of DDX18 with nsp2 and nsp10, and located DDX18's binding regions as the N-terminus of nsp2 and both the N-terminus and C-terminus of nsp10...
June 22, 2017: Virus Research
https://www.readbyqxmd.com/read/28648597/genotype-phenotype-correlation-for-congenital-heart-disease-in-down-syndrome-through-analysis-of-partial-trisomy-21-cases
#7
Maria Chiara Pelleri, Elena Gennari, Chiara Locatelli, Allison Piovesan, Maria Caracausi, Francesca Antonaros, Alessandro Rocca, Costanza Maria Donati, Letizia Conti, Pierluigi Strippoli, Marco Seri, Lorenza Vitale, Guido Cocchi
Among Down syndrome (DS) children, 40-50% have congenital heart disease (CHD). Although trisomy 21 is not sufficient to cause CHD, three copies of at least part of chromosome 21 (Hsa21) increases the risk for CHD. In order to establish a genotype-phenotype correlation for CHD in DS, we built an integrated Hsa21 map of all described partial trisomy 21 (PT21) cases with sufficient indications regarding presence or absence of CHD (n=107), focusing on DS PT21 cases. We suggest a DS CHD candidate region on 21q22...
June 22, 2017: Genomics
https://www.readbyqxmd.com/read/28647711/down-syndrome-and-moyamoya-disease-unusual-cause-of-stroke
#8
Carlos Tavares Bello, Catarina Barreiros, Inês Gil, Carlos Vasconcelos
Down syndrome is a frequent clinical entity, being considered one of the most frequent chromosomal aberrations. It is characterised by a typical clinical phenotype and is associated with a heterogeneous group of organ and system-specific abnormalities. The cardiovascular system is commonly affected and if so, it may be associated with an increased morbidity and mortality. Cerebrovascular events in patients with Down syndrome are multifactorial, being possibly related to congenital heart disease, vascular malformations and traditional cardiovascular risk factors...
June 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28647555/normalizing-the-gene-dosage-of-dyrk1a-in-a-mouse-model-of-down-syndrome-rescues-several-alzheimer-s-disease-phenotypes
#9
Susana García-Cerro, Noemí Rueda, Verónica Vidal, Sara Lantigua, Carmen Martínez-Cué
The intellectual disability that characterizes Down syndrome (DS) is primarily caused by prenatal changes in central nervous system growth and differentiation. However, in later life stages, the cognitive abilities of DS individuals progressively decline due to accelerated aging and the development of Alzheimer's disease (AD) neuropathology. The AD neuropathology in DS has been related to the overexpression of several genes encoded by Hsa21 including DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), which encodes a protein kinase that performs crucial functions in the regulation of multiple signaling pathways that contribute to normal brain development and adult brain physiology...
June 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28646847/prevalence-of-birth-defects-in-iran-a-systematic-review-and-meta-analysis
#10
Yadollah Zahed Pasha, Amin Vahedi, Mohammad Zamani, Reza Alizadeh-Navaei, Ermia Zahed Pasha
INTRODUCTION: Birth defects are a series of disorders that occur during embryonic life. In Iran, no national situation analysis is available to show the rate of congenital disorders. We aimed to estimate the prevalence of structural birth defects in Iran. METHODS: We searched for English studies on PubMed, Scopus and Google Scholar from January 1990 to July 2016. The search for Persian articles was performed in Scientific Information Database and Magiran. Two reviewers assessed the identified articles independently...
June 1, 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28646432/asynchronus-bilateral-ovarian-torsions-in-girls-systematic-review
#11
REVIEW
Maja Raicevic, Amulya Kumar Saxena
BACKGROUND: Bilateral ovarian torsions with complete loss of ovaries is devastating. This study analyzed the literature on bilateral ovarian torsions in girls to evaluate surgical options and outcomes. METHODS: Literature was searched on Pubmed® (1987-2014) using terms "bilateral", "adnexal", "ovary", "torsion" and "children". Data were collected on age, surgical preference, pathology and outcomes. RESULTS: Thirteen articles were identified, and 9 met the inclusion criteria (5 case reports, 4 original articles); and analyzed 17 girls (mean age: 8...
June 22, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28644364/an-unusual-manifestation-of-celiac-disease-in-an-adolescent-with-down-syndrome-and-graves-disease
#12
Ana L Creo, Ninfa Candela, Mary M Lee, Penny M Feldman
No abstract text is available yet for this article.
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28642677/a-novel-workflow-combining-plaque-imaging-plaque-and-plasma-proteomics-identifies-biomarkers-of-human-coronary-atherosclerotic-plaque-disruption
#13
Regent Lee, Roman Fischer, Philip D Charles, David Adlam, Alessandro Valli, Katalin Di Gleria, Rajesh K Kharbanda, Robin P Choudhury, Charalambos Antoniades, Benedikt M Kessler, Keith M Channon
BACKGROUND: Atherosclerotic plaque rupture is the culprit event which underpins most acute vascular syndromes such as acute myocardial infarction. Novel biomarkers of plaque rupture could improve biological understanding and clinical management of patients presenting with possible acute vascular syndromes but such biomarker(s) remain elusive. Investigation of biomarkers in the context of de novo plaque rupture in humans is confounded by the inability to attribute the plaque rupture as the source of biomarker release, as plaque ruptures are typically associated with prompt down-stream events of myocardial necrosis and systemic inflammation...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28642355/down-syndrome-and-aml-where-do-we-go-from-here
#14
Daisuke Tomizawa, E Anders Kolb
No abstract text is available yet for this article.
June 22, 2017: Blood
https://www.readbyqxmd.com/read/28642354/looking-up-for-aml-in-down-syndrome
#15
Jessica C Shand
No abstract text is available yet for this article.
June 22, 2017: Blood
https://www.readbyqxmd.com/read/28641136/age-exacerbates-abnormal-protein-expression-in-a-mouse-model-of-down-syndrome
#16
Md Mahiuddin Ahmed, Aaron Block, Suhong Tong, Muriel T Davisson, Katheleen J Gardiner
The Ts65Dn is a popular mouse model of Down syndrome (DS). It displays DS-relevant features of learning/memory deficits and age-related loss of functional markers in basal forebrain cholinergic neurons. Here we describe protein expression abnormalities in brain regions of 12-month-old male Ts65Dn mice. We show that the magnitudes of abnormalities of human chromosome 21 and non-human chromosome 21 orthologous proteins are greater at 12 months than at ∼6 months. Age-related exacerbations involve the number of components affected in the mechanistic target of rapamycin pathway, the levels of components of the mitogen-activated protein kinase pathway, and proteins associated with Alzheimer's disease...
May 10, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28639161/moral-distress-and-its-contribution-to-the-development-of-burnout-syndrome-among-critical-care-providers
#17
Renata Rego Lins Fumis, Gustavo Adolpho Junqueira Amarante, Andréia de Fátima Nascimento, José Mauro Vieira Junior
BACKGROUND: Burnout appears to be common among critical care providers. It is characterized by three components: emotional exhaustion, depersonalization and personal accomplishment. Moral distress is the inability of a moral agent to act according to his or her core values and perceived obligations due to internal and external constraints. We aimed to estimate the correlation between moral distress and burnout among all intensive care unit (ICU) and the step-down unit (SDU) providers (physicians, nurses, nurse technicians and respiratory therapists)...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28638720/negative-emotion-evoked-by-viewing-snakes-has-a-motivating-effect-on-cognitive-processing-in-human-children-with-or-without-intellectual-disability
#18
Nobuo Masataka
BACKGROUND: It is well known that prioritization of the processing of threatening stimuli generally induces deleterious effects on task performance. However, a study recently reported that emotion (possibly fear) evoked by viewing images of snakes exerts a facilitating effect upon making judgments of the images' color in neurotypical adults and schoolchildren. Here, the author has attempted to confirm the relevance of this notion in children with and without intellectual disability. METHODS: The author here compared the reaction time required to name the colors of snake and flower images between children with Down syndrome (DS) and mental age matched, typically-developing (TD) children...
June 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28637664/expanded-repertoire-of-rasgrp2-variants-responsible-for-platelet-dysfunction-and-severe-bleeding
#19
Sarah K Westbury, Matthias Canault, Daniel Greene, Emilse Bermejo, Katharine Hanlon, Michele P Lambert, Carolyn M Millar, Paquita Nurden, Samya G Obaji, Shoshana Revel-Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher Watt, Nihr BioResource-Rare Diseases Consortium, Kathleen Freson, Michael A Laffan, Willem H Ouwehand, Marie-Christine Alessi, Ernest Turro, Andrew D Mumford
Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterised. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI), have been reported previously in three pedigrees with bleeding and reduced platelet aggregation responses. To better define the phenotype associated with pathogenic RASGRP2 variants, we compared high-throughput sequencing and phenotype data from 2,042 cases in pedigrees with unexplained bleeding or platelet disorders to data from 5,422 controls...
June 21, 2017: Blood
https://www.readbyqxmd.com/read/28637616/down-syndrome-rasopathies-and-other-rare-syndromes
#20
Christian P Kratz, Shai Izraeli
In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development...
April 2017: Seminars in Hematology
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