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https://www.readbyqxmd.com/read/28329909/testing-the-boundaries-of-boundary-extension-anticipatory-scene-representation-across-development-and-disorder
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28328132/revised-estimates-of-the-risk-of-fetal-loss-following-a-prenatal-diagnosis-of-trisomy-13-or-trisomy-18
#5
Alana Cavadino, Joan K Morris
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327364/telomere-length-analysis-in-down-syndrome-birth
#6
Pranami Bhaumik, Mandar Bhattacharya, Priyanka Ghosh, Sujoy Ghosh, Subrata Kumar Dey
Human reproductive fitness depends upon telomere chemistry. Maternal age, meiotic nondisjunction error and telomere length of mother of trisomic child are someway associated. Reports exhibiting maternal inheritance of telomere length in Down syndrome child are very scanty. To investigate this, we collected peripheral blood from 170 mothers of Down syndrome child and 186 age matched mothers of euploid child with their newly born babies. Telomere length was measured by restriction digestion - southern blotting technique...
March 19, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28326926/potential-protein-biomarkers-for-burning-mouth-syndrome-discovered-by-quantitative-proteomics
#7
Eoon Hye Ji, Cynthia Diep, Tong Liu, Hong Li, Robert Merrill, Diana Messadi, Shen Hu
Burning mouth syndrome (BMS) is a chronic pain disorder characterized by severe burning sensation in normal looking oral mucosa. Diagnosis of BMS remains to be a challenge to oral healthcare professionals because the method for definite diagnosis is still uncertain. In this study, a quantitative saliva proteomic analysis was performed in order to identify target proteins in BMS patients' saliva that may be used as biomarkers for simple, non-invasive detection of the disease. By using isobaric tags for relative and absolute quantitation labeling and liquid chromatography-tandem mass spectrometry to quantify 1130 saliva proteins between BMS patients and healthy control subjects, we found that 50 proteins were significantly changed in the BMS patients when compared to the healthy control subjects ( p ≤ 0...
January 2017: Molecular Pain
https://www.readbyqxmd.com/read/28326320/duodenal-atresia-open-versus-mis-repair-analysis-of-our-experience-over-the-last-12-years
#8
Salvatore Fabio Chiarenza, Valeria Bucci, Maria Luisa Conighi, Elisa Zolpi, Lorenzo Costa, Lorella Fasoli, Cosimo Bleve
Objective. Duodenal atresia (DA) routinely has been corrected by laparotomy and duodenoduodenostomy with excellent long-term results. We revisited the patients with DA treated in the last 12 years (2004-2016) comparing the open and the minimally invasive surgical (MIS) approach. Methods. We divided our cohort of patients into two groups. Group 1 included 10 patients with CDO (2004-09) treated with open procedure: 5, DA; 3, duodenal web; 2, extrinsic obstruction. Three presented with Down's syndrome while 3 presented with concomitant malformations...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28326014/the-gabaergic-hypothesis-for-cognitive-disabilities-in-down-syndrome
#9
REVIEW
Andrea Contestabile, Salvatore Magara, Laura Cancedda
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of chromosome 21. DS affects multiple organs, but it invariably results in altered brain development and diverse degrees of intellectual disability. A large body of evidence has shown that synaptic deficits and memory impairment are largely determined by altered GABAergic signaling in trisomic mouse models of DS. These alterations arise during brain development while extending into adulthood, and include genesis of GABAergic neurons, variation of the inhibitory drive and modifications in the control of neural-network excitability...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28322650/parental-feeding-behaviors-and-weight-related-concerns-in-children-with-special-needs
#10
Michele Polfuss, Pippa Simpson, Rachel Neff Greenley, Liyun Zhang, Kathleen J Sawin
Parental feeding behaviors and concern about child weight are associated with obesity among youth who are typically developing. Little is known about this relationship among parents of youth with special needs, despite these children having higher obesity risk. This study used an online survey to explore associations among parental feeding behaviors, parent weight concerns, demographics, and child weight status in a sample of 356 parents of children diagnosed with autism spectrum disorder, spina bifida, and Down syndrome...
January 1, 2017: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28322457/declining-antibody-levels-after-hepatitis-b-vaccination-in-down-syndrome-a-need-for-booster-vaccination
#11
N B Eijsvoogel, M I Hollegien, L A Bok, A Derksen-Lubsen, F Dikken, A C A P Leenders, A Pijning, E Post, M Wojciechowski, M Hilbink, E de Vries
We determined the anti-HBs titer in 227 children of all ages with Down syndrome (DS). Only 48.1% (95% CI: 35.1-61.3) of the DS children aged 7-10 years and 31.9% (95% CI: 22.1-43.6) of the DS children aged >10 years had a protective anti-HBs titer (≥10 IU/l). The geometric mean anti-HBs titer was significantly lower in the DS children; this suggests booster vaccination for HBV may be needed. This article is protected by copyright. All rights reserved.
March 21, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28320584/growth-charts-for-brazilian-children-with-down-syndrome-birth-to-20-years-of-age
#12
Fabio Bertapelli, Stamatis Agiovlasitis, Maira Rossmann Machado, Raísa do Val Roso, Gil Guerra-Junior
BACKGROUND: The growth of youth with Down syndrome (DS) differs from that of youth without DS, and growth charts specific to DS have been developed. However, little is known about the growth of Brazilian youth with DS. The objective of this study was to construct growth charts for Brazilian youth with DS and compare the growth data with the Child Growth Standards of the World Health Organization (WHO) and charts for children with DS from other studies. METHODS: Mixed longitudinal and cross-sectional data were collected at University of Campinas, 48 specialized centers for people with intellectual disabilities, and two foundations for people with DS between 2012 and 2015...
March 17, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/28320334/use-of-a-patient-decision-aid-for-prenatal-screening-for-down-syndrome-what-do-pregnant-women-say
#13
Maria Esther Leiva Portocarrero, Anik M C Giguère, Johanie Lépine, Mirjam M Garvelink, Hubert Robitaille, Agathe Delanoë, Isabelle Lévesque, Brenda J Wilson, François Rousseau, France Légaré
BACKGROUND: Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors influencing pregnant women's use of a patient decision aid for deciding about prenatal screening for Down syndrome (DS). METHODS: This qualitative study was embedded in a sequential mixed-methods research program whose main aim is to implement shared decision-making (SDM) in the context of prenatal screening for DS in the province of Quebec, Canada...
March 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28306515/decentralized-safety-concept-for-closed-loop-controlled-intensive-care
#14
Jan Kühn, Christian Brendle, André Stollenwerk, Martin Schweigler, Stefan Kowalewski, Thorsten Janisch, Rolf Rossaint, Steffen Leonhardt, Marian Walter, Rüdger Kopp
This paper presents a decentralized safety concept for networked intensive care setups, for which a decentralized network of sensors and actuators is realized by embedded microcontroller nodes. It is evaluated for up to eleven medical devices in a setup for automated acute respiratory distress syndrome (ARDS) therapy. In this contribution we highlight a blood pump supervision as exemplary safety measure, which allows a reliable bubble detection in an extracorporeal blood circulation. The approach is validated with data of animal experiments including 35 bubbles with a size between 0...
March 17, 2017: Biomedizinische Technik. Biomedical Engineering
https://www.readbyqxmd.com/read/28303724/non-alcoholic-fatty-liver-disease-nafld-pathogenesis-classification-and-effect-on-drug-metabolizing-enzymes-and-transporters
#15
Enoch Cobbina, Fatemeh Akhlaghi
Non-alcoholic fatty liver disease (NAFLD) is a spectrum of liver disorders. It is defined by the presence of steatosis in more than 5% of hepatocytes with little or no alcohol consumption. Insulin resistance, the metabolic syndrome or type 2 diabetes and genetic variants of PNPLA3 or TM6SF2 seem to play a role in the pathogenesis of NAFLD. The pathological progression of NAFLD follows tentatively a "three-hit" process namely steatosis, lipotoxicity and inflammation. The presence of steatosis, oxidative stress and inflammatory mediators like TNF-α and IL-6 has been implicated in the alterations of nuclear factors such as CAR, PXR, PPAR-α in NAFLD...
March 17, 2017: Drug Metabolism Reviews
https://www.readbyqxmd.com/read/28303472/chronic-exertional-compartment-syndrome-in-the-forearm-of-a-collegiate-softball-pitcher
#16
REVIEW
Austin Cole, John L Hiatt, Christopher Arnold, Terry Sites, Ramon Ylanon
BACKGROUND: Chronic exertional compartment syndrome (CECS) is a recognized condition in the lower limb, with many reports in the literature. However, very few instances include CECS of the upper limb. This article presents the case of a collegiate softball pitcher presenting with CECS in her right forearm. To our knowledge, this is the first case report of a softball player with CECS, with only one similar incident in a major league baseball player. PURPOSE: The rarity of this condition normally places it low on the differential diagnosis...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28301716/prenatal-screening-it-is-not-just-about-down-syndrome
#17
Mary E Norton
Currently available prenatal genetic testing options include a bewildering array of tests from which patients, providers, insurers, and various health systems have to select. In many cases, patients or providers undergo or recommend multiple screening tests focused on the same conditions, for fear of missing something, even if the chance of that is very small. In the commentary in this issue of BJOG by Alfirevic and colleagues (Alfirevic Z, et al. BJOG In Press), the authors opine on the relationship between cell free DNA screening (cfDNA) and first trimester anatomy ultrasound...
March 16, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28298794/anesthetic-implications-in-a-child-with-crouzon-syndrome
#18
Ajeet Kumar, Nitika Goel, Chandni Sinha, Abhishek Singh
Crouzon syndrome (CS) is an autosomal dominant genetic disorder characterized by craniofacial dysostosis. Premature fusion of skull base leads to midfacial hypoplasia, shallow orbit, mandibular prognathism, overcrowding of upper teeth, high-arched palate, and upper airway obstruction. It is important for anesthesiologists managing such patients to recognize and avoid potential airway complications. Here, we present a case of a 10-year-old child with CS posted for ptosis correction surgery. Use of peripheral nerve blocks to cut down opioid requirement, inhalational induction, and maintenance are key aspects in successful management of such cases...
January 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28298623/length-dependent-gene-misexpression-is-associated-with-alzheimer-s-disease-progression
#19
Shahar Barbash, Thomas P Sakmar
Recent reports show transcription preference for long genes in neuronal tissues compared with non-neuronal tissues, and a gene-length dependent change in expression in the neurodevelopmental disease Rett syndrome (RTT). Whether the gene-length dependent changes in expression seen in RTT might also be seen in neurodegenerative diseases is not yet known. However, a reasonable hypothesis is that similar effects might be seen in neurodegenerative diseases as well as in RTT since a common general feature of both illnesses involves progressive dysfunction of synapses...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28295826/prevalence-types-and-associations-of-medically-unexplained-symptoms-and-signs-a-cross-sectional-study-of-1023-adults-with-intellectual-disabilities
#20
M Osugo, J Morrison, L Allan, D Kinnear, S-A Cooper
BACKGROUND: Medically unexplained symptoms and signs are common in the general population and can respond to appropriate managements. We aimed to quantify the types and prevalence of unexplained symptoms and signs experienced by adults with ID and to determine the associated factors. METHOD: In a population-based study, 1023 adults with ID aged 16 and over had a detailed health assessment, which systematically considered symptoms and signs. Descriptive data were generated on their symptoms and signs...
March 9, 2017: Journal of Intellectual Disability Research: JIDR
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