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https://www.readbyqxmd.com/read/28733957/a-review-of-biomarkers-for-alzheimer-s-disease-in-down-syndrome
#1
REVIEW
Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Down syndrome (Trisomy 21; DS) is a unique disease known to be associated with early-onset Alzheimer's disease (AD). The initial presentation of AD in DS is usually difficult to recognize, owing to the underlying intellectual disabilities. Using biomarkers as a prediction tool for detecting AD in at-risk people with DS may benefit patient care. The objective of this review is to discuss the utility of biomarkers in DS on the basis of the pathophysiology of the disease and to provide an update on recent studies in this field...
July 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/28730138/ileal-perforation-with-norovirus-gastroenteritis-in-a-3-month-old-infant
#2
Seol Woo Wi, Su Jin Lee, Eun Kyeong Kang, Sung Min Cho
Noroviruses have been recognized as the leading cause of epidemic and sporadic gastroenteritis since the advent of molecular diagnostic technique. They have been documented in 5-31% of pediatric patients hospitalized with gastroenteritis. Although norovirus gastroenteritis is typically mild and self-limited, it causes severe, but sometimes fatal, conditions in the vulnerable population such as immunocompromised patients, young children, and the elderly. Bowel perforation due to norovirus infection is rare. We report a case of small bowel perforation with norovirus gastroenteritis in the infant with Down syndrome during the hospitalization with pneumonia...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28728769/social-inclusion-of-children-with-down-syndrome-jewish-and-muslim-mothers-knowledge-attitudes-beliefs-and-behavioral-intentions
#3
Sivia Barnoy, Anna Biton, Michal Itzhaki
PURPOSE: The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system. DESIGN AND METHODS: A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Analysis included a regression test of intention to integrate children with DS and a one-way ANOVA for differences between Jewish and Muslim mothers...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28728615/success-of-tonsillectomy-for-obstructive-sleep-apnea-in-children-with-down-syndrome
#4
David G Ingram, Amanda G Ruiz, Dexiang Gao, Norman R Friedman
STUDY OBJECTIVES: Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS) and associated with significant morbidity. In the current study we examined polysomnographic outcomes of children with DS who underwent tonsillectomy. METHODS: A retrospective chart review of children with DS who underwent a tonsillectomy between 2009-2015 was performed. All children had either a concurrent adenoidectomy or had previously underwent an adenoidectomy. Children with preoperative and postoperative polysomnograms within 6 months of surgery were included in the analysis...
July 14, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
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
#5
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
#6
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/28724324/strong-impact-of-ethnicity-on-effectiveness-of-the-first-trimester-maternal-serum-screen-of-fetal-down-syndrome
#7
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/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
#8
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
#9
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/28715807/amniotic-fluid-angiogenic-and-inflammatory-factor-profiling-in-foetal-down-syndrome
#10
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
#11
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/28705861/myeloid-leukemia-associated-with-down-syndrome
#12
Caroline E Talsma, Daniel F Boyer
No abstract text is available yet for this article.
July 13, 2017: Blood
https://www.readbyqxmd.com/read/28705658/disturbance-of-redox-homeostasis-in-down-syndrome-role-of-iron-dysmetabolism
#13
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
https://www.readbyqxmd.com/read/28705019/a-rare-case-of-pediatric-primary-cardiac-tumor-in-a-patient-with-down-syndrome
#14
Kimiaki Okada, Ayumu Masuoka, Kentaro Hotoda, Yoshimasa Uno, Takaaki Suzuki
Although hematological malignancies are a known complication of Down syndrome, few reports have described cases involving solid tumors. We describe the case of a 3-year-old Down syndrome girl with a primary solid cardiac tumor. Outpatient echocardiography after intracardiac repair of a ventricular septal defect at 6 months of age revealed a highly mobile pedunculated mass (8 × 9 mm) on the free wall of the right atrium. Due to potential incarceration of the mass in the tricuspid orifice, it was excised under extracorporeal circulation and cardiac arrest...
January 1, 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28697486/oxidant-production-and-sod1-protein-expression-in-single-skeletal-myofibers-from-down-syndrome-mice
#15
Patrick M Cowley, Divya R Nair, Lara R DeRuisseau, Stefan Keslacy, Mustafa Atalay, Keith C DeRuisseau
Down syndrome (DS) is a genetic condition caused by the triplication of chromosome 21. Persons with DS exhibit pronounced muscle weakness, which also occurs in the Ts65Dn mouse model of DS. Oxidative stress is thought to be an underlying factor in the development of DS-related pathologies including muscle dysfunction. High-levels of oxidative stress have been attributed to triplication and elevated expression of superoxide dismutase 1 (SOD1); a gene located on chromosome 21. The elevated expression of SOD1 is postulated to increase production of hydrogen peroxide and cause oxidative injury and cell death...
July 4, 2017: Redox Biology
https://www.readbyqxmd.com/read/28695546/knockdown-of-myo-inositol-transporter-smit1-normalizes-cholinergic-and-glutamatergic-function-in-an-immortalized-cell-line-established-from-the-cerebral-cortex-of-a-trisomy-16-fetal-mouse-an-animal-model-of-human-trisomy-21-down-syndrome
#16
Ana María Cárdenas, Paola Fernández-Olivares, Ignacio Díaz-Franulic, Arlek M González-Jamett, Takeshi Shimahara, Juan Segura-Aguilar, Raúl Caviedes, Pablo Caviedes
The Na(+)/myo-inositol cotransporter (SMIT1) is overexpressed in human Down syndrome (DS) and in trisomy 16 fetal mice (Ts16), an animal model of the human condition. SMIT1 overexpression determines increased levels of intracellular myo-inositol, a precursor of phophoinositide synthesis. SMIT1 is overexpressed in CTb cells, an immortalized cell line established from the cerebral cortex of a Ts16 mouse fetus. CTb cells exhibit impaired cytosolic Ca(2+) signals in response to glutamatergic and cholinergic stimuli (increased amplitude and delayed time-dependent kinetics in the decay post-stimulation), compared to our CNh cell line, derived from the cerebral cortex of a euploid animal...
July 10, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28692948/parenting-children-with-down-syndrome-an-analysis-of-parenting-styles-parenting-dimensions-and-parental-stress
#17
B Allyson Phillips, Frances Conners, Mary Elizabeth Curtner-Smith
BACKGROUND: Effective parenting is vital for a child's development. Although much work has been conducted on parenting typically developing children, little work has examined parenting children with Down syndrome. AIMS: The purpose of the current study was to compare the parenting styles and dimensions in mothers of children with DS and mothers of TD children. METHODS AND PROCEDURES: Thirty-five mothers of children with DS and 47 mothers of TD children completed questionnaires about parenting, parental stress, child behavior problems, and child executive function...
July 7, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#18
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28686324/demographics-and-co-occurring-conditions-in-a-clinic-based-cohort-with-down-syndrome-in-the-united-arab-emirates
#19
Jennifer Price Corder, Fatima Jaber Sehmi Al Ahbabi, Hind Saif Al Dhaheri, Fares Chedid
The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28685282/bone-mineral-density-in-adults-with-down-syndrome
#20
A Carfì, R Liperoti, D Fusco, S Giovannini, V Brandi, D L Vetrano, E Meloni, D Mascia, E R Villani, E Manes Gravina, R Bernabei, G Onder
This study analyzed data of bone mineral density (BMD) from a large cohort of adults with Down syndrome (DS). BMD was found to decrease with age more rapidly in these subjects than in the general population, exposing adults with DS to an increased risk of osteoporosis and bone fracture. INTRODUCTION: Down syndrome (DS) in adulthood presents with a high prevalence of osteoporosis. However, in DS, bone mineral density (BMD) can be underestimated due to short stature. Furthermore, the rate of age-related decline in BMD and its association with gender in DS has been rarely evaluated or compared with the general population...
July 6, 2017: Osteoporosis International
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