keyword
MENU ▼
Read by QxMD icon Read
search

down syndrome adults

keyword
https://www.readbyqxmd.com/read/28222523/anomalous-white-matter-structure-and-the-effect-of-age-in-down-syndrome-patients
#1
Raquel Fenoll, Jesus Pujol, Susanna Esteba-Castillo, Susana de Sola, Núria Ribas-Vidal, Javier García-Alba, Gonzalo Sánchez-Benavides, Gerard Martínez-Vilavella, Joan Deus, Mara Dierssen, Ramón Novell-Alsina, Rafael de la Torre
BACKGROUND: Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages. OBJECTIVE: The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident...
February 7, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28215510/short-term-treatment-with-flumazenil-restores-long-term-object-memory-in-a-mouse-model-of-down-syndrome
#2
Damien Colas, Bayarsaikhan Chuluun, Craig C Garner, H Craig Heller
Down syndrome (DS) is a common genetic cause of intellectual disability yet no pro-cognitive drug therapies are approved for human use. Mechanistic studies in a mouse model of DS (Ts65Dn mice) demonstrate that impaired cognitive function is due to excessive neuronal inhibitory tone. These deficits are normalized by chronic, short-term low doses of GABAA receptor (GABAAR) antagonists in adult animals, but none of the compounds investigated are approved for human use. We explored the therapeutic potential of flumazenil (FLUM), a GABAAR antagonist working at the benzodiazepine binding site that has FDA approval...
February 12, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28203607/epigallocatechin-gallate-a-useful-therapy-for-cognitive-disability-in-down-syndrome
#3
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Sandra Guidi, Elisabetta Ciani, Renata Bartesaghi
Neurodevelopmental alterations and cognitive disability are constant features of Down syndrome (DS), a genetic condition due to triplication of chromosome 21. DYRK1A is one of the triplicated genes that is thought to be strongly involved in brain alterations. Treatment of Dyrk1A transgenic mice with epigallocatechin gallate (EGCG), an inhibitor of DYRK1A, improves cognitive performance, suggesting that EGCG may represent a suitable treatment of DS. Evidence in the Ts65Dn mouse model of DS shows that EGCG restores hippocampal development, although this effect is ephemeral...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28196778/mucopolysaccharidoses-seen-in-adults-in-rheumatology
#4
Stéphane Mitrovic, Hélène Gouze, Laure Gossec, Thierry Schaeverbeke, Bruno Fautrel
Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. However, some of them have a more progressive presentation, with musculoskeletal symptoms at the forefront and a lifespan that nearly reaches that of the general population...
February 11, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28192686/the-down-syndrome-brain-in-the-presence-and-absence-of-fibrillar-%C3%AE-amyloidosis
#5
Tiina Annus, Liam R Wilson, Julio Acosta-Cabronero, Arturo Cardenas-Blanco, Young T Hong, Tim D Fryer, Jonathan P Coles, David K Menon, Shahid H Zaman, Anthony J Holland, Peter J Nestor
People with Down syndrome (DS) have a neurodevelopmentally distinct brain and invariably developed amyloid neuropathology by age 50. This cross-sectional study aimed to provide a detailed account of DS brain morphology and the changes occuring with amyloid neuropathology. Forty-six adults with DS underwent structural and amyloid imaging-the latter using Pittsburgh compound B (PIB) to stratify the cohort into PIB-positive (n = 19) and PIB-negative (n = 27). Age-matched controls (n = 30) underwent structural imaging...
January 17, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28187370/language-comprehension-in-children-adolescents-and-adults-with-down-syndrome
#6
Bernadette Witecy, Martina Penke
BACKGROUND: There is conflicting evidence as to whether receptive language abilities of individuals with Down syndrome (DS) continue to improve into adulthood, reach a plateau in late adolescence, or even start to decline. AIM: The study aims to shed light on the question whether receptive syntactic skills change from childhood/adolescence to adulthood and provides a detailed qualitative analysis of the receptive abilities of adults with DS. METHODS: 58 individuals with DS participated in the study: 31 children/adolescents (aged: 4;6-19;0 years) and 27 adults (aged: 20;8-40;3 years)...
February 7, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28164278/quantification-of-walking-based-physical-activity-and-sedentary-time-in-individuals-with-rett-syndrome
#7
Jenny Downs, Helen Leonard, Kingsley Wong, Nikki Newton, Kylie Hill
AIM: To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy. METHOD: Sixty-four participants with a mean age of 17 years and 7 months (standard deviation [SD] 9y) were recruited from the Australian Rett Syndrome Database for this cross-sectional study. Each participant wore a StepWatch Activity Monitor for at least 4 days...
February 6, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28144195/oral-health-of-down-syndrome-adults-in-bosnia-and-herzegovina
#8
Selma Porovic, Amila Zukanovic, Hrvoje Juric, Senka Mesihovic Dinarevic
INTRODUCTION: The objective of this study was to determine the oral health condition Down syndrome (DS) adults in Bosnia and Herzegovina, by analyzing oral health of Down syndrome individuals in two largest regions, Sarajevo and Tuzla Canton. PATIENTS AND METHODS: Caries and oral health status of 33 Down syndrome adults aged 19-45 years were examined and assessed according WHO 1997 criteria. RESULTS: The mean DMFT index is 15,96±8,08. The analysis of oral hygiene of Down syndrome children by using the debris index, is found that 42,4% have very good oral hygiene, 21,2% respondents have good oral hygiene, 27,3% are with poor oral hygiene, while the very poor hygiene have 9,1% subjects...
December 2016: Materia Socio-medica
https://www.readbyqxmd.com/read/28143937/screen-for-reactivation-of-mecp2-on-the-inactive-x-chromosome-identifies-the-bmp-tgf-%C3%AE-superfamily-as-a-regulator-of-xist-expression
#9
Smitha Sripathy, Vid Leko, Robin L Adrianse, Taylor Loe, Eric J Foss, Emily Dalrymple, Uyen Lao, Tonibelle Gatbonton-Schwager, Kelly T Carter, Bernhard Payer, Patrick J Paddison, William M Grady, Jeannie T Lee, Marisa S Bartolomei, Antonio Bedalov
Rett syndrome (RS) is a debilitating neurological disorder affecting mostly girls with heterozygous mutations in the gene encoding the methyl-CpG-binding protein MeCP2 on the X chromosome. Because restoration of MeCP2 expression in a mouse model reverses neurologic deficits in adult animals, reactivation of the wild-type copy of MeCP2 on the inactive X chromosome (Xi) presents a therapeutic opportunity in RS. To identify genes involved in MeCP2 silencing, we screened a library of 60,000 shRNAs using a cell line with a MeCP2 reporter on the Xi and found 30 genes clustered in seven functional groups...
January 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28127177/prognostic-benefit-of-surgical-management-of-renal-cell-carcinoma-invading-the-inferior-vena-cava
#10
REVIEW
Aikaterini Mastoraki, Sotiria Mastoraki, Maria Tsikala-Vafea, Ioannis S Papanikolaou, Andreas Lazaris, Vassilios Smyrniotis, Nikolaos Arkadopoulos
Renal cell carcinoma (RCC) accounts for approximately 3 % of adult malignancies and 90-95 % of neoplasms arising from the kidney. One of the unique features of RCC is the tumor thrombus formation that migrates into the venous system including renal vein (RV) and inferior vena cava (IVC). Only 10 % of patients with RCC present with the classic triad of flank pain, hematuria and defined mass, while 25-30 % of affected patients are asymptomatic. Signs of para-neoplastic syndrome such as hypercalcemia, hypertension, anemia, cachexia and increased erythrocyte sedimentation rate (ESR) are often apparent...
March 2017: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28124590/a-multicentre-italian-validation-study-in-aging-adults-with-down-syndrome-and-other-forms-of-intellectual-disabilities-dementia-screening-questionnaire-for-individuals-with-intellectual-disabilities
#11
Tiziano Gomiero, Marco Bertelli, Shoumitro Deb, Elisabeth Weger, Annachiara Marangoni, Elisa De Bastiani, Ulrico Mantesso, Luc Pieter De Vreese
BACKGROUND: The USA National Task Group (NTG) guidelines advocate the use of an adapted version of Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) for dementia screening of individuals with Down syndrome (DS) and with other forms of ID (non-DS). OBJECTIVE: In order to meet these guidelines, this study verifies the psychometric properties of an Italian version of the original DSQIID in a population composed of adults aged 40 years and over with DS and non-DS ID...
January 16, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28123024/dna-pkcs-atm-and-atr-interplay-maintains-genome-integrity-during-neurogenesis
#12
Vanessa Enriquez-Rios, Lavinia C Dumitrache, Susanna M Downing, Yang Li, Eric J Brown, Helen R Russell, Peter J McKinnon
: The DNA damage response (DDR) orchestrates a network of cellular processes that integrates cell-cycle control and DNA repair or apoptosis, which serves to maintain genome stability. DNA-PKcs (the catalytic subunit of the DNA-dependent kinase, encoded by PRKDC), ATM (ataxia telangiectasia, mutated), and ATR (ATM and Rad3-related) are related PI3K-like protein kinases and central regulators of the DDR. Defects in these kinases have been linked to neurodegenerative or neurodevelopmental syndromes...
January 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28116787/effects-of-detraining-on-anthropometry-aerobic-capacity-and-functional-ability-in-adults-with-down-syndrome
#13
P H Boer
BACKGROUND: Structured exercise has shown to improve parameters of functional fitness in adults with Down syndrome (DS). However, few, if any, continue to exercise after exercise intervention studies. Consequently, the purpose of this study was to determine the effects of detraining on anthropometry, aerobic capacity and functional ability of adults with DS. METHODS: In a previous study, forty-two participants either performed 12 weeks of interval training, continuous aerobic training or no training (CON)...
January 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28112737/pediatric-non-down-syndrome-acute-megakaryoblastic-leukemia-is-characterized-by-distinct-genomic-subsets-with-varying-outcomes
#14
Jasmijn D E de Rooij, Cristyn Branstetter, Jing Ma, Yongjin Li, Michael P Walsh, Jinjun Cheng, Askar Obulkasim, Jinjun Dang, John Easton, Lonneke J Verboon, Heather L Mulder, Martin Zimmermann, Cary Koss, Pankaj Gupta, Michael Edmonson, Michael Rusch, Joshua Yew Suang Lim, Katarina Reinhardt, Martina Pigazzi, Guangchun Song, Allen Eng Juh Yeoh, Lee-Yung Shih, Der-Cherng Liang, Stephanie Halene, Diane S Krause, Jinghui Zhang, James R Downing, Franco Locatelli, Dirk Reinhardt, Marry M van den Heuvel-Eibrink, C Michel Zwaan, Maarten Fornerod, Tanja A Gruber
Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) in which cells morphologically resemble abnormal megakaryoblasts. While rare in adults, AMKL accounts for 4-15% of newly diagnosed childhood AML cases. AMKL in individuals without Down syndrome (non-DS-AMKL) is frequently associated with poor clinical outcomes. Previous efforts have identified chimeric oncogenes in a substantial number of non-DS-AMKL cases, including RBM15-MKL1, CBFA2T3-GLIS2, KMT2A gene rearrangements, and NUP98-KDM5A...
January 23, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28109983/the-clinical-and-neurobehavioral-course-of-down-syndrome-and-dementia-with-or-without-new-onset-epilepsy
#15
Taha Gholipour, Sara Mitchell, Rani A Sarkis, Zeina Chemali
BACKGROUND: Adult patients with Down syndrome (DS) are at higher risk of developing Alzheimer-type dementia and epilepsy. The relationship between developing dementia and the risk of developing seizures in DS is poorly characterized to date. In addition, treatment response and medication tolerability have not been rigorously studied. METHODS: We identified 220 patients with a diagnosis of DS and dementia. Those without a history of developing seizures (DD) were compared to patients with new-onset seizures (DD+S) after the age of 35...
January 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28103494/factors-associated-with-meeting-physical-activity-guidelines-by-adults-with-intellectual-and-developmental-disabilities
#16
Roger J Stancliffe, Lynda L Anderson
BACKGROUND: Many individuals with intellectual and developmental disabilities (IDD) have sedentary lifestyles. AIMS: (a) compare adults with IDD with the general adult population on adherence to U.S. physical activity (PA) guidelines, and (b) determine what factors predict adherence to PA guidelines by adults with IDD. METHODS: We compared adults with IDD from the 2011-2012 National Core Indicators Adult Consumer Survey (NCI-ACS) with the general U...
January 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28034975/pain-and-cognitive-functioning-in-adults-with-down-syndrome
#17
Nanda C de Knegt, Frank Lobbezoo, Carlo Schuengel, Heleen M Evenhuis, Erik J A Scherder
OBJECTIVE:  The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain (i.e., affirmative answer to the question whether the individual feels pain) and experience of pain (i.e., intensity and affect) in adults with Down syndrome (DS). DESIGN, SETTING, AND SUBJECTS:  Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) in the Netherlands...
December 29, 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28018980/the-londowns-adult-cognitive-assessment-to-study-cognitive-abilities-and-decline-in-down-syndrome
#18
Carla M Startin, Sarah Hamburg, Rosalyn Hithersay, Amy Davies, Erin Rodger, Nidhi Aggarwal, Tamara Al-Janabi, André Strydom
BACKGROUND: Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with an ultra-high risk of developing Alzheimer's disease. However, there is individual variability in the onset of clinical dementia and in baseline cognitive abilities prior to decline, particularly in memory, executive functioning, and motor coordination. The LonDownS Consortium aims to determine risk and protective factors for the development of dementia and factors relating to cognitive abilities in people with DS...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/28009725/cognitive-decline-and-dementia-in-down-syndrome
#19
Rosalyn Hithersay, Sarah Hamburg, Bernice Knight, André Strydom
PURPOSE OF REVIEW: Alzheimer's disease is most likely universal in older individuals with Down syndrome, due to having three copies of the amyloid precursor protein gene, resulting in amyloid-beta plaque deposition. Down syndrome is an important population in which to consider clinical trials of treatments to prevent or delay the development of dementia. However, assessment of subtler cognitive changes is challenging due to the presence of intellectual disability. RECENT FINDINGS: Recent research confirmed that older adults with Down syndrome often present with cognitive decline: more than 80% may experience dementia by age 65 years...
March 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/27991738/down-syndrome-in-diverse-populations
#20
Paul Kruszka, Antonio R Porras, Andrew K Sobering, Felicia A Ikolo, Samantha La Qua, Vorasuk Shotelersuk, Brian H Y Chung, Gary T K Mok, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Ogochukwu Jidechukwu Sokunbi, Nnenna Kalu, Daniel Akinsanya Joseph, Desmond Ikebudu, Christopher Emeka Ugwu, Christy A N Okoromah, Yonit A Addissie, Katherine L Pardo, J Joseph Brough, Ni-Chung Lee, Katta M Girisha, Siddaramappa Jagdish Patil, Ivy S L Ng, Breana Cham Wen Min, Saumya S Jamuar, Shailja Tibrewal, Batriti Wallang, Suma Ganesh, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, L B Lahiru Prabodha, Antonio Richieri-Costa, Premala Muthukumarasamy, Meow-Keong Thong, Kelly L Jones, Omar A Abdul-Rahman, Ekanem Nsikak Ekure, Adebowale A Adeyemo, Marshall Summar, Marius George Linguraru, Maximilian Muenke
Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0...
January 2017: American Journal of Medical Genetics. Part A
keyword
keyword
78510
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"