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"Down syndrome"

Moushira E Zaki, Hala T El-Bassyouni, Angie M S Tosson, Eman Youness, Jihan Hussein
OBJECTIVE: Evidence of oxidative stress was reported in individuals with Down syndrome. There is a growing interest in the contribution of the immune system in Down syndrome. The aim of this study is to evaluate the coenzyme Q10 (CoQ10) and selected pro-inflammatory markers such as interleukin 6 (IL-6) and tumor necrosis factor α (TNFα) in children with Down syndrome. METHODS: Eighty-six children (5-8 years of age) were enrolled in this case-control study from two public institutions...
October 19, 2016: Jornal de Pediatria
Juan Jose Saldaña Barrios, Luis Mendoza, Edgardo Pitti, Miguel Vargas
In this work, the authors present two eHealth platforms that are examples of how health systems are migrating from client-server architecture to the web-based and ubiquitous paradigm. These two platforms were modeled, designed, developed and implemented with positive results. First, using ambient-assisted living and ubiquitous computing, the authors enhance how palliative care is being provided to the elderly patients and patients with terminal illness, making the work of doctors, nurses and other health actors easier...
October 21, 2016: Health Informatics Journal
Bruno Facon, David Magis
Purpose: An item analysis of Bishop's (1983) Test for Reception of Grammar (TROG) in its French version (F-TROG; Lecocq, 1996) was conducted to determine whether the difficulty of items is similar for participants with or without intellectual disability (ID). Method: In Study 1, responses to the 92 F-TROG items by 55 participants with Down syndrome (DS), 55 with ID of undifferentiated etiology (UND), and 55 typical children (TYP) matched on their F-TROG total score were compared using the transformed item difficulties method, a statistical approach designed to detect differential item functioning (DIF) between groups...
October 20, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
Manuella Gautier, Michèle Gueneret, Corinne Plavonil, Eugénie Jolivet, Bruno Schaub
OBJECTIVE: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21. METHODS: Prenatal records of euploid, non-malformed singleton fetuses who underwent second-trimester ultrasonographic scans at 20-24 weeks of gestation were retrospectively analyzed for NBL and gestational age (GA). Only Afro-Caribbean couples were selected. The relationship between fetal NBL and GA was determined...
October 21, 2016: Fetal Diagnosis and Therapy
(no author information available yet)
Layla Haidrani, writing in Learning Disability Practice, aims to debunk the myths and misconceptions that parents of children with Down's syndrome face.
October 12, 2016: Nursing Standard
Jane Fisher
Antenatal screening for Down's syndrome, and particularly the potential NHS implementation of the more sensitive cell-free DNA screening known as NIPT (non-invasive prenatal testing), has had intense media coverage recently, prompted by the BBC2 documentary A World Without Down's Syndrome.
October 12, 2016: Nursing Standard
Amy R Reed
This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent genetic counselors as neutral parties...
October 19, 2016: Journal of Medical Humanities
Mahmood D Al-Mendalawi, Hany M Abo-Haded
[No abstract available].
November 2016: Saudi Medical Journal
José Luiz Pedroso, Thiago Cardoso Vale, Orlando Graziani Povoas Barsottini
No abstract text is available yet for this article.
2016: Tremor and Other Hyperkinetic Movements
Thitiporn Junhasavasdikul, Nichanan Ruangwattanapaisarn, Sani Molagool, Chatmanee Lertudomphonwanit, Nongnuch Sirachainan, Noppadol Larbcharoensub
Immature gastric teratoma is an uncommon germ cell tumor of the stomach. We report a rare case of immature gastric teratoma in an infant with down syndrome with clinically presenting with hematemesis and severe anemia. Complete surgical resection remains the cornerstone of treatment.
October 2016: Clinical Case Reports
Juan Eduardo Samur San-Matín, Ezequiel Moreira Gonçalves, Fabio Bertapelli, Roberto Teixeira Mendes, Gil Guerra-Júnior
INTRODUCTION: Adolescents with Down syndrome (DS) show high rate of overweight and tend to accumulate high amount of fat compared to the same people without the syndrome. OBJECTIVE: To estimate the cutoff point of the Body Mass Index (BMI) for the diagnosis of obesity in adolescents with DS according to different references for BMI in relation to the percentage of body fat (%BF) measured by dual-energy X-ray absorptiometry (DXA). METHODS: The sample was composed of 34 adolescents with DS (aged: 10 to 17 years old)...
September 20, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Eric D Hamlett, Edward J Goetzl, Aurélie Ledreux, Vitaly Vasilevko, Heather A Boger, Angela LaRosa, David Clark, Steven L Carroll, Maria Carmona Iragui, Juan Fortea, Elliott J Mufson, Marwan Sabbagh, Abdul H Mohammed, Dean Hartley, Eric Doran, Ira T Lott, Ann-Charlotte Granholm
INTRODUCTION: Individuals with Down syndrome (DS) exhibit Alzheimer's disease (AD) neuropathology and dementia early in life. Blood biomarkers of AD neuropathology would be valuable, as non-AD intellectual disabilities of DS and AD dementia overlap clinically. We hypothesized that elevations of amyloid-β (Aβ) peptides and phosphorylated-tau in neuronal exosomes may document preclinical AD. METHODS: AD neuropathogenic proteins Aβ1-42, P-T181-tau, and P-S396-tau were quantified by enzyme-linked immunosorbent assays in extracts of neuronal exosomes purified from blood of individuals with DS and age-matched controls...
October 15, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
Jeffrey Fagen, Phyllis Ohr, Kimberly Boller
In this article, we reflect upon Carolyn Rovee-Collier's pioneering research on learning and memory in infants, especially that using the mobile conjugate reinforcement task, for our understanding of (a) cognitive development in infants born prematurely and those with Down's syndrome and (b) her prediction that infants' performance in the mobile conjugate reinforcement and similar operant tasks would predict later intellectual functioning. We then examine the implications of her research on time windows (the integration of new information into a memory) and memory reactivation (the retrieval of a forgotten memory as a result of the re-exposure to a component of the original learning experience) for early intervention programs and clinicians treating victims of early trauma...
November 2016: Developmental Psychobiology
Anita F Oliveira, Aline Tansini, Daniel O Vidal, Luiz F Lopes, Konradin Metze, Irene Lorand-Metze
BACKGROUND: Immunophenotyping of bone marrow (BM) hemopoietic precursors is useful for diagnosis of adult myelodysplastic syndrome (MDS), but data concerning pediatric patients are limited. We analyzed immunophenotypic features of BM cells at diagnosis of children who were referred to the Brazilian Pediatric Cooperative Group of Myelodysplastic Syndromes. METHODS: Diagnosis was based on clinical information, peripheral blood counts, BM cytology and cytogenetics...
October 17, 2016: Pediatric Blood & Cancer
Erika Herrero-Garcia, John P O'Bryan
Intersectins (ITSNs) are a family of multi-domain proteins involved in regulation of diverse cellular pathways. These scaffold proteins are well known for regulating endocytosis but also play important roles in cell signaling pathways including kinase regulation and Ras activation. ITSNs participate in several human cancers, such as neuroblastomas and glioblastomas, while its downregulation is associated with lung injury. Alterations in ITSN expression have been found in neurodegenerative diseases such as Down Syndrome and Alzheimer's disease...
October 12, 2016: Biochimica et Biophysica Acta
Jan Pieter Marchal, Heleen Maurice-Stam, Bregje A Houtzager, Susanne L Rutgers van Rozenburg-Marres, Kim J Oostrom, Martha A Grootenhuis, A S Paul van Trotsenburg
BACKGROUND: We analysed developmental outcomes from a clinical trial early in life and its follow-up at 10.7 years in 123 children with Down syndrome. AIMS: To determine 1) strengths and weaknesses in adaptive functioning and motor skills at 10.7 years, and 2) prognostic value of early-life characteristics (early developmental outcomes, parental and child characteristics, and comorbidity) for later intelligence, adaptive functioning and motor skills. METHODS AND PROCEDURES: We used standardized assessments of mental and motor development at ages 6, 12 and 24 months, and of intelligence, adaptive functioning and motor skills at 10...
October 13, 2016: Research in Developmental Disabilities
E Sacide Çağlayan
Dual-specificity thyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a strong therapeutic target to ameliorate cognitive functions of Down Syndrome (DS). Genetic normalization of Dyrk1a is sufficient to normalize early cortical developmental phenotypes in DS mouse models. Gyrencephalic human neocortical development is more complex than that in lissencephalic mice, hence cerebral organoids (COs) can be used to model early neurodevelopmental defects of DS. Single copy DYRK1A knockout COs (scDYRK1AKO-COs) can be generated from manipulated DS derived (DS-) induced pluripotent stem cells (iPSCs) and genetic normalization of DYRK1A is expected to result in corrected neurodevelopmental phenotypes that can be reminiscent of normal COs...
October 15, 2016: Cell Biology International
José Ramón Corcuera-Flores, Julián López-Giménez, Julián López-Jiménez, Ana López-Giménez, Javier Silvestre-Rangil, Guillermo Machuca-Portillo
OBJECTIVES: To evaluate implant survival rate and marginal bone loss (MBL) after 4 years in patients with Down syndrome and cerebral palsy, compared with a healthy control group. MATERIAL AND METHODS: The case group comprises 102 implants in 19 patients (71 cerebral palsy, 21 Down syndrome), and the control group comprises 70 implants in 22 healthy patients. One implant per patient was selected (n = 41 implants) to take clustering effects into account. MBL was measured using two panoramic radiographs (after surgery and 4 years later)...
October 14, 2016: Clinical Oral Investigations
Teresa N Sparks, Mary E Norton, Monica Flessel, Sara Goldman, Robert J Currier
OBJECTIVE: To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. METHODS: This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included...
October 6, 2016: Obstetrics and Gynecology
Ayeswarya Ravikumar, Jason D Marsack, Julia S Benoit, Heather A Anderson
PURPOSE: To assess the repeatability of simulated keratometry measures obtained with Zeiss Atlas topography for subjects with and without Down syndrome (DS). METHODS: Corneal topography was attempted on 140 subjects with DS and 138 controls (aged 7-59 years). Subjects who had at least three measures in each eye were included in analysis (DS: n = 140 eyes (70 subjects) and controls: n = 264 eyes (132 subjects)). For each measurement, the steep corneal power (K), corneal astigmatism, flat K orientation, power vector representation of astigmatism (J0, J45), and astigmatic dioptric difference were determined for each measurement (collectively termed keratometry values here)...
October 12, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
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