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Down's syndrome

M Kvandová, M Majzúnová, I Dovinová
The peroxisome proliferator-activated receptors (PPAR) belong to the nuclear superfamily of ligand-activated transcription factors. PPARgamma acts as a nutrient sensor that regulates several homeostatic functions. Its disruption can lead to vascular pathologies, disorders of fatty acid/lipid metabolism and insulin resistance. PPARgamma can modulate several signaling pathways connected with blood pressure regulation. Firstly, it affects the insulin signaling pathway and endothelial dysfunction by modulation of expression and/or phosphorylation of signaling molecules through the PI3K/Akt/eNOS or MAPK/ET-1 pathways...
October 24, 2016: Physiological Research
Alexandre Webster, Melina Schuh
Eggs and sperm develop through a specialized cell division called meiosis. During meiosis, the number of chromosomes is reduced by two sequential divisions in preparation for fertilization. In human female meiosis, chromosomes frequently segregate incorrectly, resulting in eggs with an abnormal number of chromosomes. When fertilized, these eggs give rise to aneuploid embryos that usually fail to develop. As women become older, errors in meiosis occur more frequently, resulting in increased risks of infertility, miscarriage, and congenital syndromes, such as Down's syndrome...
September 27, 2016: Trends in Cell Biology
Rocío Carmona, Cristina Linares, Cristina Ortiz, Blanca Vázquez, Julio Díaz
BACKGROUND: Although the effects of noise on population morbidity and mortality have been observed both in the short and long term, the morbidity and mortality indicators used to date have not enabled information on such health effects to be accessed in real time. At an international level, there are relatively few studies, mostly recent, which have considered an alternative indicator, such as the demand for medical attention provided by emergency services, taking into account environmental factors other than noise...
October 19, 2016: Environmental Research
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
Hongli Li, Victoria M Hitchins, Samanthi Wickramasekara
Bacterial endotoxins are lipopolysaccharides bound to the bacterial cell wall and released when bacteria rupture or disintegrate. Possible contamination of endotoxin in ophthalmic devices can cause a painful eye inflammation or result in toxic anterior segment syndrome after cataract surgery. Measurement of bacterial endotoxin in medical device materials is difficult since endotoxin binds with polymer matrix and some of the materials are very viscous and non-water soluble, where traditional enzyme-based Limulus amebocyte lysate (LAL) assay cannot be applied...
November 2, 2016: Analytica Chimica Acta
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
Yujie Jiang, Yi Zeng, Xia Huang, Yueqiu Qin, Weigui Luo, Shulin Xiang, Suren R Sooranna, Liao Pinhu
Acute respiratory distress syndrome (ARDS) is characterized by inflammatory injury to the alveolar and capillary barriers that results in impaired gas exchange and severe acute respiratory failure. Nuclear orphan receptor Nur77 has emerged as a regulator of gene expression in inflammation and its role in the pathogenesis of ARDS is not clear. The objective of this study is to investigate the potential role of Nur77 and its underlying mechanism in the regulation of endothelin-1 (ET-1) expression in LPS-induced A549 cells and an ARDS rat model...
October 7, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
Amalia Pérez-Jiménez, Eva E Rufino-Palomares, Nieves Fernández-Gallego, M Carmen Ortuño-Costela, Fernando J Reyes-Zurita, Juan Peragón, Leticia García-Salguero, Khalida Mokhtari, Pedro P Medina, José A Lupiáñez
BACKGROUND: Metabolic syndrome is a set of pathologies among which stand out the obesity, which is related to the lipid droplet accumulation and changes to cellular morphology regulated by several molecules and transcription factors. Maslinic acid (MA) is a natural product with demonstrated pharmacological functions including anti-inflammation, anti-tumor and anti-oxidation, among others. PURPOSE: Here we report the effects of MA on the adipogenesis process in 3T3-L1 cells...
November 15, 2016: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
Tahar Ait-Ali, Ivan Díaz, Ferran Soldevila, Esmeralda Cano, Yanli Li, Alison D Wilson, Bruno Giotti, Alan L Archibald, Enric Mateu, Laila Darwich
Little is known about the host factor in the response to PRRSV vaccination. For this purpose, piglets were immunized with a commercial PRRSV-live vaccine and classified as high responders (HR) or low responders (LR) as regards to the frequencies of virus-specific IFN-γ-secreting cells. Six weeks post vaccination, PBMCs isolated from three individuals with the most extreme responses in each HR and LR groups and 3 unvaccinated controls, were either stimulated with phytohaemagglutinin, challenged with the vaccine or mock treated for 24 h, prior conducting transcriptional studies, gene ontology and pathway analyses...
October 20, 2016: Veterinary Research
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
Kentaro Nobutani, Daisuke Sawada, Shigeru Fujiwara, Yuki Kuwano, Kensei Nishida, Jiro Nakayama, Hiromu Kutsumi, Takeshi Azuma, Kazuhito Rokutan
AIMS: To clarify the effects of Lactobacillus gasseri CP2305 (CP2305) on quality of life and clinical symptoms and its functional mechanisms in patients with irritable bowel syndrome (IBS). METHODS AND RESULTS: After the patients were administered CP2305 daily for 4 weeks, the IBS-severity index score was significantly improved compared with that of the placebo group, and this improvement was accompanied by a reduction of health-related worry and changes in intestinal microbiota...
October 20, 2016: Journal of Applied Microbiology
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
Sankalp Yadav, Gautam Rawal
Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid Craniosynostosis syndrome. The syndrome was first introduced by Sugarman and Vogel' (1981) however, Shprintzen and Goldberg established this as a separate clinical entity in the year 1982. Since then, approximately sixty such cases have been set down in writing in the medical literature. Herein, we present a short review of literature of this rare connective disorder, in order to create awareness about this condition, as the magnitude of this disorder is not measured properly due to the paucity of literature...
2016: Pan African Medical Journal
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
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