Full Text Journal Articles about
Down Syndrome

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Immune priming: the secret weapon of the insect world.

Gerard Sheehan, Gemma Farrell, Kevin Kavanagh,

Insects are a highly successful group of animals that inhabit almost every habitat and environment on Earth. Part of their success is due to a rapid and highly effective immune response that identifies, inactivates, and eliminates pathogens. Insects possess an immune system that shows many similarities to the innate immune ... Read more >>

Virulence (Virulence)
[2020, 11(1):238-246]

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miR-155 is high-expressed in polycystic ovarian syndrome and promotes cell proliferation and migration through targeting PDCD4 in KGN cells.

Huanjun Xia, Yaxian Zhao,

Polycystic ovarian syndrome (PCOS) is a typical disease of female endocrine and metabolic abnormalities. miR-155, famous as a multifunctional miRNA, promotes the proliferation, migration and invasion of human cancer cells. Therefore, we aimed to explore its regulation mechanism in PCOS. BrdU incorporation and apoptosis assay were used to test KGN ... Read more >>

Artif Cells Nanomed Biotechnol (Artificial cells, nanomedicine, and biotechnology)
[2020, 48(1):197-205]

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Altered levels of complement components associated with non-immediate drug hypersensitivity reactions.

Feng Wang, Liping Huang, Junfeng Yu, Dandan Zang, Liangping Ye, Qixing Zhu,

Nonimmediate drug hypersensitivity reactions (niDHRs) range from mild-type maculopapular exanthema (MPE) to severe type Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) with unentirely clarified pathogenesis. This study sought to explore whether complement components participated in niDHRs. The participants comprised of three groups as follows: MPE (n = 65), SJS/TEN (n = 13, contains ... Read more >>

J Immunotoxicol (Journal of immunotoxicology)
[2020, 17(1):1-9]

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Down syndrome and dementia: advances in the field.

Eimear McGlinchey, Philip McCallion, Mary McCarron,

PURPOSE OF REVIEW:People with Down syndrome represent the world's largest population with a genetic risk for Alzheimer's disease. This review will provide a short summary of what is known and will include recent findings from the field. RECENT FINDINGS:There has been an increasing focus on biomarker research in this population, ... Read more >>

Curr Opin Psychiatry (Current opinion in psychiatry)
[2020, 33(3):278-283]

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Tex19.1 inhibits the N-end rule pathway and maintains acetylated SMC3 cohesin and sister chromatid cohesion in oocytes.

Judith Reichmann, Karen Dobie, Lisa M Lister, James H Crichton, Diana Best, Marie MacLennan, David Read, Eleanor S Raymond, Chao-Chun Hung, Shelagh Boyle, Katsuhiko Shirahige, Howard J Cooke, Mary Herbert, Ian R Adams,

Age-dependent oocyte aneuploidy, a major cause of Down syndrome, is associated with declining sister chromatid cohesion in postnatal oocytes. Here we show that cohesion in postnatal mouse oocytes is regulated by Tex19.1. We show Tex19.1-/- oocytes have defects maintaining chiasmata, missegregate their chromosomes during meiosis, and transmit aneuploidies to the ... Read more >>

J. Cell Biol. (The Journal of cell biology)
[2020, 219(5):]

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Cognitive Profiles and Autism Symptoms in Comorbid Down Syndrome and Autism Spectrum Disorder.

Taralee Hamner, Susan Hepburn, Fengqing Zhang, Deborah Fidler, Cordelia Robinson Rosenberg, Diana L Robins, Nancy R Lee,

OBJECTIVE:The prevalence of comorbid autism spectrum disorder (ASD) in children with Down syndrome (DS) is estimated to be around 16%. This study aims to fill gaps in the literature by describing developmental and behavioral phenotypes in this group relative to those with DS or ASD in isolation. METHODS:Participants included 173 ... Read more >>

J Dev Behav Pediatr (Journal of developmental and behavioral pediatrics : JDBP)
[2020, 41(3):172-179]

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Immune and TRG repertoire signature of the thymus in Down syndrome patients.

Shira Rabinowicz, Atar Lev, Yu Nee Lee, Diti Machnes-Maayan, Uriel Katz, Amir Vardi, David Mishali, Raz Somech,

BACKGROUND:Patients with Down syndrome (DS) are at increased risk for infections and autoimmune disorders. Although several immunological abnormalities were previously found, differences in T cell receptor repertoire have never been shown. Thus we compared the T cell receptor gamma (TRG) repertoire in DS and non-syndromic pediatric patients by next-generation sequencing, ... Read more >>

Pediatr. Res. (Pediatric research)
[2020, :]

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Illustration of tessellation in Down syndrome.

Lavinia Postolache, Casper De Jong, Georges Casimir,

Background: Tessellated fundus refers to a specific change in the appearance of the internal layers of the eye in which the choroidal large vessels became visible through polygonal hypopigmented areas. Such hypopigmented areas alternate with hyperpigmented zones in a tigroid pattern. Fundus tessellation is often associated with myopia and choroidal ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-11]

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Prospective evaluation of autoimmune and non-autoimmune subclinical hypothyroidism in Down syndrome children.

Giorgia Pepe, Domenico Corica, Luisa De Sanctis, Mariacarolina Salerno, Maria Felicia Faienza, Daniele Tessaris, Gerdi Tuli, Iris Scala, Laura Penta, Angela Alibrandi, Giovanni Battista Pajno, Tommaso Aversa, Malgorzata Wasniewska, ,

Objective:To evaluate the prevalence and natural course of autoimmune and non-autoimmune subclinical hypothyroidism (SH) in Down syndrome (DS) children and adolescents. Design:Prospective multicenter study. Methods:For the study, 101 DS patients with SH (TSH 5-10 mIU/L; FT4 12-22 pmol/L), aged 2-17 years at SH diagnosis were enrolled. Annual monitoring of TSH, ... Read more >>

Eur. J. Endocrinol. (European journal of endocrinology)
[2020, 182(4):385-392]

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Oral management of a patient with down syndrome and agammaglobulinemia: a case report.

Yasuka Kusumoto, Kohsuke Imai, Yoshio Ohyama, Haruhisa Fukayama, Osamu Shinozuka,

BACKGROUND:Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders. Patients with Down syndrome are highly prone to respiratory tract infections, which might be fatal to them. However, there are only few ... Read more >>

BMC Oral Health (BMC oral health)
[2020, 20(1):71]

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Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase.

David Mengel, Wen Liu, Robert J Glynn, Dennis J Selkoe, Andre Strydom, Florence Lai, H Diana Rosas, Amy Torres, Vasiliki Patsiogiannis, Brian Skotko, Dominic M Walsh,

BACKGROUND:Down syndrome (DS) is the most common genetic cause of Alzheimer's disease (AD), but diagnosis of AD in DS is challenging due to the intellectual disability which accompanies DS. When disease-modifying agents for AD are approved, reliable biomarkers will be required to identify when and how long people with DS ... Read more >>

Alzheimers Res Ther (Alzheimer's research & therapy)
[2020, 12(1):27]

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Symposium report: emerging threats for human health - impact of socioeconomic and climate change on zooanthroponosis in the Republic of Sakha (Yakutia), Russia.

Irene Huber, Katerina Potapova, Elena Ammosova, Wolfgang Beyer, Sergey Blagodatskiy, Roman Desyatkin, Ludwig E Hoelzle, Margarita Ignateva, Ludmila Kokolova, Stefanie Lemke, Mikhail Neustroev, Ayan Nyukkanov, Galina Protodyakonova, Alexander Reshetnikov, Thomas Romig, Vyacheslav Shadrin, Izabella Samoilova, Sergey Semenov, Konstantin Stepanov, Nadezhda Tarabukina, Liliia Vinokurova, Raisa Zakharova, Konstantin Nifontov,

Population growth, socio-cultural and economic changes as well as technological progress have an immediate impact on the environment and human health in particular. Our steadily rising needs of resources increase the pressure on the environment and narrow down untainted habitats for plants and wild animals. Balance and resilience of ecosystems ... Read more >>

Int J Circumpolar Health (International journal of circumpolar health)
[2020, 79(1):1715698]

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Using AAC video visual scene displays to increase participation and communication within a volunteer activity for adolescents with complex communication needs.

Salena Babb, David McNaughton, Janice Light, Jessica Caron, Kirk Wydner, Sojung Jung,

Volunteer activities can provide opportunities to learn new skills, build social networks, and contribute to enhanced self-esteem. Volunteering also provides a positive contribution to society, and an opportunity to participate in activities that may differ from those in paid employment. People with severe disabilities and complex communication needs, however, may ... Read more >>

Augment Altern Commun (Augmentative and alternative communication (Baltimore, Md. : 1985))
[2020, :1-12]

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The prevalence of lower airway anomalies in children with Down syndrome compared to controls.

Mariska De Lausnay, Stijn Verhulst, Lieve Boel, Marek Wojciechowski, An Boudewyns, Kim Van Hoorenbeeck,

INTRODUCTION:Children with Down syndrome (DS) often present with chronic respiratory symptoms. Congenital airway anomalies have been described but data about prevalence is scarce and a comparison to controls is lacking. We aim to compare the endoscopic and clinical data of children with DS to controls without significant medical history. METHODS:All ... Read more >>

Pediatr. Pulmonol. (Pediatric pulmonology)
[2020, :]

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Constitutive activation of RAS/MAPK pathway cooperates with trisomy 21 and is therapeutically exploitable in Down syndrome B-cell leukemia.

Anouchka P Laurent, Aurelie Siret, Cathy Ignacimouttou, Kunjal Panchal, M'boyba Diop, Silvia Jenni, Yi-Chien Tsai, Damien Roos-Weil, Zakia Aid, Nais Prade, Stephanie Lagarde, Damien Plassard, Gaelle Pierron, Estelle Daudigeos, Yann Lecluse, Nathalie Droin, Beat C Bornhauser, Laurence C Cheung, John D Crispino, Muriel Gaudry, Olivier A Bernard, Elizabeth Macintyre, Carole Barin Bonnigal, Rishi S Kotecha, Birgit Geoerger, Paola Ballerini, Jean-Pierre Bourquin, Eric Delabesse, Thomas Mercher, Sebastien Malinge,

PURPOSE:Children with Down syndrome (DS, constitutive trisomy 21) that develop acute lymphoblastic leukemia (DS-ALL) have a 3-fold increased likelihood of treatment-related mortality coupled with a higher cumulative incidence of relapse, compared to other children with B-cell acute lymphoblastic leukemia (B-ALL). This highlights the lack of suitable treatment for DS children ... Read more >>

Clin. Cancer Res. (Clinical cancer research : an official journal of the American Association for Cancer Research)
[2020, :]

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Airway Ciliary Beating Affected by the Pcp4 Dose-Dependent [Ca2+]i Increase in Down Syndrome Mice, Ts1Rhr.

Haruka Kogiso, Matthieu Raveau, Kazuhiro Yamakawa, Daichi Saito, Yukiko Ikeuchi, Tomonori Okazaki, Shinji Asano, Toshio Inui, Yoshinori Marunaka, Takashi Nakahari,

In Ts1Rhr, a Down syndrome model mouse, the airway ciliary beatings are impaired; that is, decreases in ciliary beat frequency (CBF) and ciliary bend angle (CBA, an index of ciliary beat amplitude)). A resumption to two copies of the Pcp4 gene on the Ts1Rhr trisomic segment (Ts1Rhr:Pcp4+/+/-) rescues the decreases ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(6):]

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Canadian Cannabis Consumption and Patterns of Congenital Anomalies: An Ecological Geospatial Analysis.

Albert Stuart Reece, Gary Kenneth Hulse,

OBJECTIVES:Cannabis is a known teratogen. Data availability addressing both major congenital anomalies and cannabis use allowed us to explore their geospatial relationships. METHODS:Data for the years 1998 to 2009 from Canada Health and Statistics Canada was analyzed in R. Maps have been drawn and odds ratios, principal component analysis, correlation ... Read more >>

J Addict Med (Journal of addiction medicine)
[2020, :]

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Vowel Acoustics and Speech Intelligibility in Young Adults With Down Syndrome.

Micalle Carl, Raymond D Kent, Erika S Levy, D H Whalen,

Purpose Speech production deficits and reduced intelligibility are frequently noted in individuals with Down syndrome (DS) and are attributed to a combination of several factors. This study reports acoustic data on vowel production in young adults with DS and relates these findings to perceptual analysis of speech intelligibility. Method Participants ... Read more >>

J. Speech Lang. Hear. Res. (Journal of speech, language, and hearing research : JSLHR)
[2020, 63(3):674-687]

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Age-dependent DNA methylation Parenclitic Networks in family-based cohort patients with Down Syndrome

Krivonosov, Nazarenko, M.G. Bacalini, Franceschi, Zaikin, Ivanchenko,

ABSTRACT Network models are a powerful tool to represent, analyze and unfold the complexity of a large-dimensional data system at the fundamental level. The main advantage of network analysis is the opportunity to identify network disease signatures which we use in this paper for patients with Down Syndrome. One of ... Read more >>

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Increased T Cell Plasticity With Dysregulation of Follicular Helper T, Peripheral Helper T, and Treg Cell Responses in Children With Juvenile Idiopathic Arthritis and Down Syndrome-Associated Arthritis.

C Foley, A Floudas, M Canavan, M Biniecka, E J MacDermott, D J Veale, R H Mullan, O G Killeen, U Fearon,

OBJECTIVE:Juvenile idiopathic arthritis (JIA) is the most common inflammatory arthritis in children; however, an aggressive, erosive arthritis of little-known immunologic mechanism occurs 20 times more frequently in children with Down syndrome. This study was undertaken to characterize T cell and B cell polyreactivity, follicular helper T (Tfh) cell, peripheral helper T ... Read more >>

(Arthritis & rheumatology (Hoboken, N.J.))
[2020, 72(4):677-686]

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Pulmonary hypertension and myocardial function in infants and children with Down syndrome.

Aisling Mary Smith, Philip T Levy, Orla Franklin, Eleanor Molloy, Afif El-Khuffash,

Down Syndrome (DS) is the most common chromosomal abnormality of live born babies. Individuals with DS are at increased risk of cardiopulmonary morbidities in the early neonatal period, infancy and childhood that manifest with elevated pulmonary arterial pressures and altered myocardial performance. Pulmonary hypertension (PH) during the early neonatal period ... Read more >>

Arch. Dis. Child. (Archives of disease in childhood)
[2020, :]

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Changes in megakaryopoiesis over ontogeny and their implications in health and disease.

Patricia Davenport, Zhi-Jian Liu, Martha Sola-Visner,

A growing body of research has made it increasingly clear that there are substantial biological differences between fetal/neonatal and adult megakaryopoiesis. Over the last decade, studies revealed a developmentally unique uncoupling of proliferation, polyploidization, and cytoplasmic maturation in neonatal MKs that results in the production of large numbers of small, ... Read more >>

Platelets (Platelets)
[2020, :1-8]

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Down syndrome and parental depression: A double hit on early expressive language development.

Hana D'Souza, Amanda Lathan, Annette Karmiloff-Smith, Denis Mareschal,

BACKGROUND AND AIMS:Down syndrome (DS) is often characterised by intellectual disability with particular difficulties in expressive language. However, large individual differences exist in expressive language across development in DS. In the general population, one of the factors associated with variability in this domain is parental depression. We investigated whether this ... Read more >>

Res Dev Disabil (Research in developmental disabilities)
[2020, 100:103613]

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Risk factors and intraoral breastmilk application for MRSA colonization in surgical neonates.

Mikihiro Inoue, Keiichi Uchida, Yuka Nagano, Kohei Matsushita, Yuhki Koike, Kohei Otake, Yoshiki Okita, Yuji Toiyama, Toshimitsu Araki, Masato Kusunoki,

BACKGROUND:Our previous study identified methicillin-resistant Staphylococcus aureus (MRSA) colonization as an independent risk factor for neonatal surgical site infection. Here we introduce intraoral breastmilk application (IBMA) during fasting state to prevent MRSA colonization. We aimed to evaluate both the risk factors for MRSA colonization and the efficacy of IBMA in ... Read more >>

Pediatr Int (Pediatrics international : official journal of the Japan Pediatric Society)
[2020, :]

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Effects of Pidotimod on recurrent respiratory infections in children with Down syndrome: a retrospective Italian study.

Diletta Valentini, Chiara Di Camillo, Nadia Mirante, Valentina Marcellini, Rita Carsetti, Alberto Villani,

BACKGROUND:Children with Down syndrome (DS) show a high susceptibility to recurrent infections (RI), caused by immune defects and abnormalities of the airways. Our goal was to investigate the effects of Pidotimod on RI prevention in children with DS, comparing immune and clinical parameters before (T0) and after (T1) the treatment ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):31]

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