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https://www.readbyqxmd.com/read/28335382/feasibility%C3%A2-of%C3%A2-assessing%C3%A2-diet%C3%A2-with%C3%A2-a%C3%A2-mobile%C3%A2-food%C3%A2-record%C3%A2-for%C3%A2-adolescents%C3%A2-and%C3%A2-young%C3%A2-adults%C3%A2-with%C3%A2-down%C3%A2-syndrome
#1
Katherine E Bathgate, Jill L Sherriff, Helen Leonard, Satvinder S Dhaliwal, Edward J Delp, Carol J Boushey, Deborah A Kerr
Technology-based methods for assessing diet in those with disability remains largely unexplored. The aim was to assess the feasibility of assessing diet with an image-based mobile food record application (mFR) in 51 adolescents and young adults with Down syndrome (PANDs). Adherence was also assessed with the instruction to include a fiducial marker object in the before and after eating images. The PANDs sample completed a four-day mFR and results were compared with a sample of young adults from the Connecting Health and Technology study (CHAT, n = 244)...
March 13, 2017: Nutrients
https://www.readbyqxmd.com/read/28330812/molecular-evidence-for-differential-long-term-outcomes-of-early-life-severe-acute-malnutrition
#2
Allan Sheppard, Sherry Ngo, Xiaoling Li, Michael Boyne, Debbie Thompson, Anthony Pleasants, Peter Gluckman, Terrence Forrester
BACKGROUND: Severe acute malnutrition (SAM) in infants may present as one of two distinct syndromic forms: non-edematous (marasmus), with severe wasting and no nutritional edema; or edematous (kwashiorkor) with moderately severe wasting. These differences may be related to developmental changes prior to the exposure to SAM and phenotypic changes appear to persist into adulthood with differences between the two groups. We examined whether the different response to SAM and subsequent trajectories may be explained by developmentally-induced epigenetic differences...
March 8, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28329817/early-life-benzo-a-pyrene-exposure-causes-neurodegenerative-syndromes-in-adult-zebrafish-danio-rerio-and-the-mechanism-involved
#3
Dongxu Gao, Chonggang Wang, Zhihui Xi, Yixi Zhou, Yuanchuan Wang, Zhenghong Zuo
There is increasing recognition of the importance of early-life environmental exposures in health disorders at later-life stages. The aim of this study was to evaluate whether early-life exposure to benzo[a]pyrene (BaP) could induce neurodegenerative syndromes at later-life stages in zebrafish. Embryos were exposed to BaP at doses of 0, 0.05, 0.5, 5, and 50 nM from early embryogenesis to 96 h post-fertilization (hpf), then transferred to clean water and maintained for 365 days. We found that BaP decreased locomotor and cognitive ability, neurotransmitter levels of dopamine, 3,4-dihydroxyphenylacetic acid and norepinephrine; and induced loss of dopaminergic neurons and resulted in neurodegeneration...
January 30, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28295826/prevalence-types-and-associations-of-medically-unexplained-symptoms-and-signs-a-cross-sectional-study-of-1023-adults-with-intellectual-disabilities
#4
M Osugo, J Morrison, L Allan, D Kinnear, S-A Cooper
BACKGROUND: Medically unexplained symptoms and signs are common in the general population and can respond to appropriate managements. We aimed to quantify the types and prevalence of unexplained symptoms and signs experienced by adults with ID and to determine the associated factors. METHOD: In a population-based study, 1023 adults with ID aged 16 and over had a detailed health assessment, which systematically considered symptoms and signs. Descriptive data were generated on their symptoms and signs...
March 9, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28294567/growth-hormone-secretagogues-prevent-dysregulation-of-skeletal-muscle-calcium-homeostasis-in-a-rat-model-of-cisplatin-induced-cachexia
#5
Elena Conte, Giulia Maria Camerino, Antonietta Mele, Michela De Bellis, Sabata Pierno, Francesco Rana, Adriano Fonzino, Roberta Caloiero, Laura Rizzi, Elena Bresciani, Khoubaib Ben Haj Salah, Jean-Alain Fehrentz, Jean Martinez, Arcangela Giustino, Maria Addolorata Mariggiò, Mauro Coluccia, Domenico Tricarico, Marcello Diego Lograno, Annamaria De Luca, Antonio Torsello, Diana Conte, Antonella Liantonio
BACKGROUND: Cachexia is a wasting condition associated with cancer types and, at the same time, is a serious and dose-limiting side effect of cancer chemotherapy. Skeletal muscle loss is one of the main characteristics of cachexia that significantly contributes to the functional muscle impairment. Calcium-dependent signaling pathways are believed to play an important role in skeletal muscle decline observed in cachexia, but whether intracellular calcium homeostasis is affected in this situation remains uncertain...
March 10, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28294169/comparison-of-body-adiposity-index-bai-and-air-displacement-plethysmograph-with-estimations-of-body-fat-in-adults-with-down-s-syndrome
#6
M Rossato, R A Dellagrana, E de Souza Bezerra, R M da Costa, J O L Dos Santos, D A S Silva, F Diefenthaeler
BACKGROUND/OBJECTIVES: The aim of this study was to verify the agreement between body fat percentage (%BF) values evaluated by air displacement plethysmograph (ADP) and body adiposity index (BAI) in adults with Down's syndrome (DS). SUBJECTS/METHODS: Forty-five adults with DS volunteered to participate in this study (19 women; age 28.7±8.5 years and 26 men; age 29.1±8.8 years). The %BF was measured by ADP (%BFADP) and estimated by anthropometric measures [%BF=(hip circumference/height)(1...
March 15, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28289920/the-early-presentation-of-dementia-in-people-with-down-syndrome-a-systematic-review-of-longitudinal-studies
#7
REVIEW
Bianca Alexandra Lautarescu, Anthony John Holland, Shahid H Zaman
Adults with Down syndrome (DS) are at a very high risk of developing early onset Alzheimer's disease (AD) due to trisomy of chromosome 21. AD is preceded by a prolonged prodromal "pre-clinical" phase presenting with clinical features that do not fulfil the diagnostic criteria for AD. It is important to clinically characterise this prodromal stage to help early detection of the disease as neuropathology of AD is almost universal by the fifth decade in DS. There is a lack of knowledge of the trajectory of decline associated with the onset of dementia in this population and early signs may be overlooked or misdiagnosed, negatively affecting the quality of life of those affected and the use of early pharmacological or psychosocial interventions...
March 13, 2017: Neuropsychology Review
https://www.readbyqxmd.com/read/28270865/obstructive-sleep-apnoea-hypopnoea-syndrome-in-adults-with-down-syndrome
#8
REVIEW
Elizabeth A Hill
KEY POINTS: Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome...
December 2016: Breathe
https://www.readbyqxmd.com/read/28242979/radioactive-iodine-131-as-a-definitive-treatment-in-rare-association-of-down-syndrome-with-hyperthyroidism-a-case-report-and-review-of-literature
#9
Shoukat H Khan, Aditya Mahajan, Tanveer A Rather
Down syndrome characterized by trisomy of chromosome 21 is frequently associated with thyroid dysfunctions due to underlying autoimmune disorders. Hypothyroidism is the commonest thyroid dysfunction and hyperthyroidism, usually Graves' disease, is far less common. On literature review, we came across approximately 112 cases reported so far with the first such case report in 1946. The published data from India on hyperthyroidism in Down syndrome is of three case reports. We report one such patient, an adult male of 28 years who was administered Iodine-131 as a definitive treatment after 9-10 years of initial diagnosis...
January 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28237536/early-experience-of-macitentan-for-pulmonary-arterial-hypertension-in-adult-congenital-heart-disease
#10
S Herbert, W Gin-Sing, L Howard, R M R Tulloh
BACKGROUND: Endothelin receptor antagonists (ERA) have been recognised as effective therapy for pulmonary arterial hypertension in congenital heart disease (CHD-PH), and Eisenmenger syndrome (ES) since the Breathe 5 study. A new dual receptor antagonist - Macitentan - is currently undergoing trials to determine its efficacy in simple ES. To date there is little information on this therapy in CHD and we report our first experience, some with more complex diseases. METHODS: Data was collected prospectively from September 2014...
February 6, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28222523/anomalous-white-matter-structure-and-the-effect-of-age-in-down-syndrome-patients
#11
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...
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
#12
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
#13
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
#14
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
#15
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
#16
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)...
March 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
#17
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
#18
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
#19
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...
February 14, 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
#20
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
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