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down syndrome adults

Changqing Lu, Lihua Dong, Hui Zhou, Qianmei Li, Guojiao Huang, Shu Jun Bai, Linchuan Liao
Oligodendrocytes are the myelin-producing cells of the central nervous system (CNS). A variety of brain disorders from "classical" demyelinating diseases, such as multiple sclerosis, stroke, schizophrenia, depression, Down syndrome and autism, are shown myelination defects. Oligodendrocyte myelination is regulated by a complex interplay of intrinsic, epigenetic and extrinsic factors. Gpr17 (G protein-coupled receptor 17) is a G protein-coupled receptor, and has been identified to be a regulator for oligodendrocyte development...
March 14, 2018: Scientific Reports
Sally-Ann Cooper, Elita Smiley, Linda Allan, Jillian Morrison
BACKGROUND: Incidence and determinants of affective disorders among adults with intellectual disabilities are unknown. Aims To investigate affective disorder incidence, and determinants of unipolar depression, compared with general population reports. METHOD: Prospective cohort study measuring mental ill health of adults with mild to profound intellectual disabilities living within a defined community, over 2 years. RESULTS: There was 70% cohort retention (n = 651)...
March 15, 2018: British Journal of Psychiatry: the Journal of Mental Science
Cláudia Lopes Carvalho, Ariella Fornachari Ribeiro Belan, Leila Regina de Castro, Márcia Radanovic
PURPOSE: To characterize the linguistic profile of adults and elderly with Down Syndrome (DS) using the Arizona Battery for Communication Disorders of Dementia (ABCD). METHODS: Thirty adult individuals with DS were evaluated through the MoCA cognitive battery, four functional scales (Pfeffer, Lawton-IADL, Katz-IADL and IQCODE) and the ABCD battery, which evaluates Mental State, Episodic Memory, Linguistic Expression, Linguistic Comprehension and Visuospatial Construction...
March 12, 2018: CoDAS
A Dunham, D Kinnear, L Allan, E Smiley, S-A Cooper
BACKGROUND: People with intellectual disabilities face a much greater burden and earlier onset of physical and mental ill-health than the general adult population. Physical-mental comorbidity has been shown to result in poorer outcomes in the general population, but little is known about this relationship in adults with intellectual disabilities. AIMS: To identify whether physical ill-health is associated with mental ill-health in adults with intellectual disabilities and whether the extent of physical multi-morbidity can predict the likelihood of mental ill-health...
March 12, 2018: Journal of Intellectual Disability Research: JIDR
Laura L Burger, Charlotte Vanacker, Chayarndorn Phumsatitpong, Elizabeth R Wagenmaker, Luhong Wang, David P Olson, Suzanne M Moenter
GnRH neurons are a nexus of fertility regulation. We utilized translating ribosome affinity purification coupled with RNA sequencing to examine mRNAs of GnRH neurons in adult intact and gonadectomized (GDX) male and female mice. GnRH neuron ribosomes were tagged with green fluorescent protein (GFP) and GFP-labeled polysomes isolated by immunoprecipitation, producing one RNA fraction enhanced for GnRH neuron transcripts and one RNA fraction depleted. cDNA libraries were created from each fraction and 50-base, paired-end sequencing done and differential expression (enhanced fraction/depleted fraction) determined with a threshold of >1...
March 7, 2018: Endocrinology
Sandra Guidi, Andrea Giacomini, Fiorenza Stagni, Marco Emili, Beatrice Uguagliati, Maria Paola Bonasoni, Renata Bartesaghi
Down syndrome (DS) is a genetic condition associated with impairment in several cognitive domains. Previous evidence showed a notable neurogenesis reduction in the hippocampal region of DS fetuses, which may account for the impairment of declarative memory that characterizes DS starting from early life stages. The fusiform gyrus (FG) and the inferior temporal gyrus (ITG) play a key role in visual recognition memory, a function that is impaired in children and adults with DS. The goal of the current study was to establish whether fetuses with DS (17-21 weeks of gestation) exhibit neuroanatomical alterations in the FG and ITG that may underlie recognition memory impairment...
March 6, 2018: Brain Pathology
Lauren T Ptomey, Amanda N Szabo, Erik A Willis, Anna M Gorczyca, J Leon Greene, Jessica C Danon, Joseph E Donnelly
BACKGROUND: Between 250,000 and 400,000 individuals in the United States are diagnosed with Down syndrome (DS). Nearly all adults with DS will develop Alzheimer's disease pathology starting in their thirties. Recent studies suggest that increased physical activity (PA) may be important for maintaining components of cognition, including memory. OBJECTIVE: The purpose of this study was to evaluate changes in cognitive function after completion of a 12-week exercise intervention in adults with DS...
February 26, 2018: Disability and Health Journal
Mirja N Shaikh, Francisco J Tejedor
The Down syndrome and microcephaly related gene Mnb/Dyrk1A encodes an evolutionary conserved protein kinase subfamily that plays important roles in neurodevelopment. minibrain (mnb) mutants of Drosophila melanogaster (Dm) exhibit reduced adult brains due to neuronal deficits generated during larval development. These deficits are the consequence of the apoptotic cell death of numerous neuronal precursors that fail to properly exit the cell cycle and differentiate. We have recently found that in both the Dm larval brain and the embryonic vertebrate central nervous system (CNS), a transient expression of Mnb/Dyrk1A promotes the cell cycle exit of newborn neuronal precursors by upregulating the expression of the cyclin-dependent kinase inhibitor p27kip1 (called Dacapo in Dm)...
March 2018: Journal of Neurogenetics
Nicole Eady, Rory Sheehan, Khadija Rantell, Amanda Sinai, Jane Bernal, Ingrid Bohnen, Simon Bonell, Ken Courtenay, Karen Dodd, Dina Gazizova, Angela Hassiotis, Richard Hillier, Judith McBrien, Kamalika Mukherji, Asim Naeem, Natalia Perez-Achiaga, Vijaya Sharma, David Thomas, Zuzana Walker, Jane McCarthy, André Strydom
BACKGROUND: There is little evidence to guide pharmacological treatment in adults with Down syndrome and Alzheimer's disease. Aims To investigate the effect of cholinesterase inhibitors or memantine on survival and function in adults with Down syndrome and Alzheimer's disease. METHOD: This was a naturalistic longitudinal follow-up of a clinical cohort of 310 people with Down syndrome diagnosed with Alzheimer's disease collected from specialist community services in England...
March 2018: British Journal of Psychiatry: the Journal of Mental Science
C-C J J Chen, S D R Ringenbach
BACKGROUND: High prevalence of obesity and features of obstructive sleep apnea (OSA) are major health issues in individuals with Down syndrome (DS), and both may also affect adversely on their daily activities. Further, lower levels of physical work capacity (PWC) have been reported in this population compared to their peers with intellectual disabilities. However, no study examines the relationships between obesity and sleep problems with PWC in individuals with DS. Thus, this study investigated the influence of body mass index (BMI) and different types of sleep problems on PWC in adolescents and young adults with DS (14-31 years)...
February 27, 2018: Journal of Intellectual Disability Research: JIDR
Winston Y Lee, Olga K Weinberg, Andrew G Evans, Geraldine S Pinkus
Objectives: Myeloid proliferative disorders associated with Down syndrome (MPD-DS), including transient abnormal myelopoiesis and myeloid leukemia associated with Down syndrome (DS), harbor mutations of GATA1, a transcription factor essential for erythroid and megakaryocytic development. These mutations result in a N-terminally truncated GATA1 (GATA1s) and prohibit the production of the full-length GATA1 (GATA1f). Here, we demonstrate the utility of immunohistochemical GATA1f reactivity in diagnosing MPD-DS...
March 7, 2018: American Journal of Clinical Pathology
Dipty Jain, Dipika Mohanty
PURPOSE OF REVIEW: In the past, milder clinical manifestations of sickle cell disease (SCD) have been described from India. However, recent data from some parts of India suggest that the severity of the disease can be compared to that of African phenotypes. This review therefore describes the varied clinical manifestation of SCD, the success of newborn screening programme, prenatal diagnosis and low dose hydroxyurea therapy in India. RECENT FINDINGS: The varied clinical manifestations such as anemia, vaso-occlusive crisis, acute chest syndrome, renal involvement, stroke and so on vary from one part of the country to the other and also among different communities of India...
February 19, 2018: Current Opinion in Hematology
Ayeswarya Ravikumar, Julia S Benoit, Kelsie B Morrison, Jason D Marsack, Heather A Anderson
PURPOSE: Individuals with Down syndrome may experience greater difficulty reliably performing visual acuity (VA) tests because of intellectual disability and limitations in visual quality. This study evaluated the repeatability of acuity (Bailey-Lovie [BL] and HOTV) in subjects with and without Down syndrome. METHODS: High-contrast VA was measured in both eyes of 30 subjects with Down syndrome (mean, 30 years; range, 18 to 50 years) and 24 control subjects without Down syndrome (mean, 29 years; range, 18 to 50 years)...
February 15, 2018: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Yang Du, Ling-Fei Shan, Zong-Ze Cao, Jin-Chao Feng, Yong Cheng
Background: The association between Down syndrome and celiac disease has been reported by many studies. However, the prevalence of celiac disease (CD) in Down syndrome (DS) varies considerably across studies (from 0 % to 19 %). The aim of this study was to use meta-analysis to exam the prevalence of CD in patients with DS. Methods: A systematic search of English articles from Pubmed, Web of Science and CNKI without year limitation. Data were extracted by two independent observers and pooled using a random effects model by the Comprehensive Meta-Analysis Version 2 software...
January 12, 2018: Oncotarget
Hélène Ouellette-Kuntz, Lynn Martin, Katherine McKenzie
PURPOSE: To identify factors associated with the rate of deficit accumulation in a population of adults with intellectual and developmental disabilities (IDD). METHODS: A longitudinal analysis of administratively held clinical data collected at routine home care assessments across Ontario (Canada) using the Resident Assessment Instrument for Home Care (RAI-HC) was conducted using a cohort comprised of 5074 adults with IDD 18-99 years of age who had at least two home care assessments between April 1, 2003 and March 31, 2015...
January 31, 2018: Annals of Epidemiology
Deborah Kinnear, Jill Morrison, Linda Allan, Angela Henderson, Elita Smiley, Sally-Ann Cooper
OBJECTIVES: To investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome. DESIGN: Large, population-based cross-sectional study. SETTING: The geographical area of one Health Board, Scotland. PARTICIPANTS: All adults (aged 16+ years) known to general practitioners to have intellectual disabilities and adults receiving services provided or paid by intellectual disabilities health or social work services...
February 5, 2018: BMJ Open
M Ray, P K Hor, D Ojha, J P Soren, S N Singh, K C Mondal
Obesity is highly correlated with the dysbiosis of intestinal microbiota, and bifidobacteria are one of the soft targets of this metabolic syndrome. The aim of this study is to evaluate the efficacy of Bifidobacterium sp. MKK4 and rice-based fermented foods on physical, haematological, gut microbiota and lypogenic-lypolytic marker genes in diet-induced obese mice. Adult male mice (21±0.7 g) were randomly divided into four groups (n=10) according to the type of diet: normal diet (ND), high fat diet (HFD), HFD supplemented with Bifidobacterium sp...
February 7, 2018: Beneficial Microbes
Katie L Hackett, Katherine H O Deane, Julia L Newton, Vincent Deary, Simon Bowman, Tim Rapley, Wan-Fai Ng
OBJECTIVE: Functional ability and participation in life situations are compromised in many primary Sjögren's syndrome (PSS) patients. This study aims to identify the key barriers and priorities to participation in daily living activities, in order to develop potential future interventions. METHODS: Group concept mapping (GCM), a semi-quantitative, mixed-methods, approach was used to identify and structure ideas from UK PSS patients, adults living with a PSS patient (AHMs) and health care professionals (HCPs)...
February 6, 2018: Arthritis Care & Research
Ryoichi Fujiwara, Ryo Mitsugi, Asuka Uemura, Tomoo Itoh, Robert H Tukey
Neurotoxic bilirubin is solely conjugated by UDP-glucuronosyltransferase (UGT) 1A1. Due to an inadequate function of UGT1A1, human neonates develop mild to severe physiological hyperbilirubinemia. Accumulation of bilirubin in the brain leads to the onset of irreversible brain damage called kernicterus. Breastfeeding is one of the most significant factors that increase the risk of developing kernicterus in infants. Why does the most natural way of feeding increase the risk of brain damage or even death? This question leads to the hypothesis that breast milk-induced neonatal hyperbilirubinemia might bring certain benefits to the body...
October 2017: Hepatology Communications
Mariana Schroeder, Yonat Drori, Yair J Ben-Efraim, Alon Chen
Consumption of a low calorie diet is the most common approach to lose weight. While generally effective at first, it is frequently followed by a relapse where the pre-diet weight is regained, and often exceeded. This pattern of repeated weight loss/regain is referred to as weight cycling and the resulting metabolic response varies greatly between individuals. OBJECTIVE: We attempted to address the issue of individual differences in the response to weight cycling in male mice. METHODS: We first exposed adult wild type mice to repeated cycles of high/low fat food...
February 1, 2018: Molecular Metabolism
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