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Downs syndrome

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https://www.readbyqxmd.com/read/28647711/down-syndrome-and-moyamoya-disease-unusual-cause-of-stroke
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28636122/hidradenitis-suppurativa-in-down-syndrome-a-case-series
#14
Issam Hamadah, Mansoor Haider, Muzamil Chisti, Yousef Binamer
BACKGROUND/OBJECTIVES: Many dermatologic and systemic diseases have been reported in association with hidradenitis suppurativa, but its association with Down syndrome is rarely mentioned in the literature. The objective of the current study was to assess the frequency of hidradenitis suppurativa in patients with Down syndrome who visited our clinic over 4 years. METHODS: We recorded the presenting complaints and dermatologic problems of patients with Down syndrome who visited our clinic from January 2011 to December 2014...
June 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28635537/prenatal-diagnosis-tests-and-women-s-risk-perception-a-cross-sectional-study
#15
Simona Fumagalli, Laura Antolini, Antonella Nespoli, Patrizia Vergani, Enrico Ferrazzi, Sara Oggioni, Anna Locatelli
OBJECTIVE: To investigate women's decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability. METHOD: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS...
February 22, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#16
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#17
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28633944/gene-expression-analysis-identify-a-metabolic-and-cell-function-alterations-as-a-hallmark-of-obesity-without-metabolic-syndrome-in-peripheral-blood-a-pilot-study
#18
Daniel Antonio de Luis, Raquel Almansa, Rocío Aller, Olatz Izaola, E Romero
BACKGROUND: Understanding molecular basis involved in overweight is an important first step in developing therapeutic pathways against excess in body weight gain. OBJECTIVE: The purpose of our pilot study was to evaluate the gene expression profiles in the peripheral blood of obese patients without other metabolic complications. DESIGN: A sample of 17 obese patients without metabolic syndrome and 15 non obese control subjects was evaluated in a prospective way...
June 10, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28632747/selective-cyclooxygenase-inhibition-by-sc-560-improves-hepatopulmonary-syndrome-in-cirrhotic-rats
#19
Ching-Chih Chang, Wen-Shin Lee, Hsian-Guey Hsieh, Chiao-Lin Chuang, Hui-Chun Huang, Fa-Yauh Lee, Shou-Dong Lee
OBJECTIVE: Hepatopulmonary syndrome (HPS) is characterized by hypoxia in patients with chronic liver disease. The mechanism of HPS includes pulmonary vasodilatation, inflammation, and angiogenesis. Prostaglandins synthesized by cyclooxygenases (COX) participate in vascular responsiveness, inflammation and angiogenesis, which can be modulated by COX inhibitors. We therefore evaluated the impact of COX inhibition in rats with common bile duct ligation (CBDL)-induced liver cirrhosis and HPS...
2017: PloS One
https://www.readbyqxmd.com/read/28632506/adenotonsillectomy-for-the-management-of-pulmonary-hypertension-in-a-patient-with-complex-congenital-heart-disease-a-case-report
#20
Adam C Adler, Yuan-Jiun Nicole Chao
Pulmonary hypertension is a feared complication in congenital heart disease patients. Patients with pulmonary hypertension are at risk for major perioperative cardiopulmonary complications when undergoing any surgical procedure, especially airway and laparoscopic procedures. We present the anesthetic management for a 2-year old with Down syndrome and complex cyanotic congenital heart disease undergoing tonsillectomy and adenoidectomy for severe obstructive sleep apnea.
June 19, 2017: A & A Case Reports
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