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down syndrome adults

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https://www.readbyqxmd.com/read/28627199/hand-span-influences-optimal-grip-span-in-adolescents-with-down-syndrome
#1
José Antonio Casajús, Germán Vicente-Rodríguez, Alejandro González-Agüero, Ángel Matute-Llorente
INTRODUCTION: The hand grip strength test provides useful and reliable information about overall health. Different studies have investigated the optimal grip span for determining maximal hand grip strength in different populations such as adults, adolescents and children without disabilities. OBJECTIVE: To ascertain whether there is an optimal grip span for determining maximal hand grip strength in adolescents with Down syndrome (DS). METHODS: Twenty-seven right-handed youths with DS (seven females) aged 15...
June 5, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/28624415/aging-rather-than-aneuploidy-affects-monoamine-neurotransmitters-in-brain-regions-of-down-syndrome-mouse-models
#2
Alain D Dekker, Yannick Vermeiren, Christelle Albac, Eva Lana-Elola, Sheona Watson-Scales, Dorota Gibbins, Tony Aerts, Debby Van Dam, Elizabeth M C Fisher, Victor L J Tybulewicz, Marie-Claude Potier, Peter P De Deyn
Altered concentrations of monoamine neurotransmitters and metabolites have been repeatedly found in people with Down syndrome (DS, trisomy 21). Because of the limited availability of human post-mortem tissue, DS mouse models are of great interest to study these changes and the underlying neurobiological mechanisms. Although previous studies have shown the potential of Ts65Dn mice - the most widely used mouse model of DS - to model noradrenergic changes, a comprehensive monoaminergic characterization in multiple brain regions has not been performed so far...
June 15, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#3
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28617347/repetitive-behaviours-and-restricted-interests-in-individuals-with-down-syndrome-one-way-of-managing-their-world
#4
Sheila Glenn
This paper argues that the repetitive behaviour and restrictive interests (RBRI) displayed by individuals with Down syndrome have mostly positive functions. However, as research has developed from interests in Obsessional Compulsive Disorder or Autistic Spectrum Disorder, unfortunately a view has arisen that RBRI in individuals with Down syndrome are also likely to be pathological. This is particularly the case in adults. The paper reviews: (a) measures employed and the perspectives that have been used; (b) the development in typically developing individuals, those with Down syndrome, and those with other conditions associated with intellectual disability; (c) positive and possible negative effects of RBRI; and (d) the need for more research...
June 15, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28606696/targeted-gene-knockdown-validates-the-essential-role-of-lactate-dehydrogenase-in-cryptosporidium-parvum
#5
William H Witola, Xuejin Zhang, Chi Yong Kim
Cryptosporidium parvum is a zoonotic protozoan that can cause a life-threatening gastrointestinal syndrome in children and in immunocompromised adults. Currently, the only approved drug for treatment of Cryptosporidium infections in humans is nitazoxanide, but it is not effective in immunocompromised individuals or in children with malnutrition. This is compounded by the lack of genetic methods for studying and validating potential drug targets in the parasite. Therefore, in this study, we endeavoured to adapt the use of a phosphorodiamidate morpholino oligomer (morpholino) antisense approach to develop a targeted gene knockdown assay for use in C...
June 9, 2017: International Journal for Parasitology
https://www.readbyqxmd.com/read/28603769/longitudinal-changes-in-amyloid-positron-emission-tomography-and-volumetric-magnetic-resonance-imaging-in-the-nondemented-down-syndrome-population
#6
Patrick J Lao, Ben L Handen, Tobey J Betthauser, Iulia Mihaila, Sigan L Hartley, Annie D Cohen, Dana L Tudorascu, Peter D Bulova, Brian J Lopresti, Rameshwari V Tumuluru, Dhanabalan Murali, Chester A Mathis, Todd E Barnhart, Charles K Stone, Julie C Price, Darlynne A Devenny, Marsha R Mailick, William E Klunk, Sterling C Johnson, Bradley T Christian
INTRODUCTION: Down syndrome (DS) arises from a triplication of chromosome 21, causing overproduction of the amyloid precursor protein and predisposes individuals to early Alzheimer's disease (AD). METHODS: Fifty-two nondemented adults with DS underwent two cycles of carbon 11-labeled Pittsburgh compound B ([(11)C]PiB) and T1 weighted magnetic resonance imaging (MRI) scans 3.0 ± 0.6 years apart. Standard uptake value ratio (SUVR) images (50-70 minutes; cerebellar gray matter [GM]) and GM volumes were analyzed in standardized space (Montreal Neurological Institute space)...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28590426/down-s-syndrome-and-triple-negative-breast-cancer-a-rare-occurrence-of-distinctive-clinical-relationship
#7
Nandini Dey, Amy Krie, Jessica Klein, Kirstin Williams, Amanda McMillan, Rachel Elsey, Yuliang Sun, Casey Williams, Pradip De, Brian Leyland-Jones
Down's syndrome (DS), the most common genetic cause of significant intellectual disability in children and adults is caused by the trisomy of either all or a part of human chromosome 21 (HSA21). Patients with DS mostly suffer from characteristic tumor types. Although individual patients of DS are at a higher risk for acute leukemia and testicular cancers, other types of solid tumors including breast cancers are mostly uncommon and have significantly lower-than-expected age-adjusted incidence rates. Except for an increased risk of retinoblastomas, and lymphomas, the risk of developing solid tumors has been found to be lower in both children and adults, and breast cancer was found to be almost absent (Hasle H...
June 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28585394/wii-based-exercise-program-to-improve-physical-fitness-motor-proficiency-and-functional-mobility-in-adults-with-down-syndrome
#8
V Silva, C Campos, A Sá, M Cavadas, J Pinto, P Simões, S Machado, E Murillo-Rodríguez, N Barbosa-Rocha
BACKGROUND: People with Down syndrome (DS) usually display reduced physical fitness (aerobic capacity, muscle strength and abnormal body composition), motor proficiency impairments (balance and postural control) and physical functional limitations. Exergames can be an appealing alternative to enhance exercise engagement and compliance, whilst improving physical fitness and motor function. This study aims to analyse the effects of a Wii-based exercise program on physical fitness, functional mobility and motor proficiency of adults with DS...
June 6, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28571965/bone-health-in-down-syndrome
#9
REVIEW
Marta García-Hoyos, José Antonio Riancho, Carmen Valero
Patients with Down syndrome have a number of risk factors that theoretically could predispose them to osteoporosis, such as early aging, development disorders, reduced physical activity, limited sun exposure, frequent comorbidities and use of drug therapies which could affect bone metabolism. In addition, the bone mass of these people may be affected by their anthropometric and body composition peculiarities. In general terms, studies in adults with Down syndrome reported that these people have lower areal bone mineral density (g/cm(2)) than the general population...
May 29, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28567298/recurrent-insulinoma-in-a-10-year-old-boy-with-down-s-syndrome
#10
Noman Ahmad, Abdulmonem Mohammed Almutawa, Mohamed Ziyad Abubacker, Hossam Ahmed Elzeftawy, Osama Abdullah Bawazir
An insulinoma is a rare tumour with an incidence of four cases per million per year in adults. The incidence in children is not established. There is limited literature available in children with insulinoma, and only one case is reported in association with Down's syndrome in adults. Insulinoma diagnosis is frequently missed in adults as well as in children. The Whipple triad is the most striking feature although it has limited application in young children. Hypoglycaemia with elevated insulin, C-peptide and absent ketones is highly suggestive of hyperinsulinism...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28562181/working-memory-predicts-presence-of-auditory-verbal-hallucinations-in-schizophrenia-and-bipolar-disorder-with-psychosis
#11
Lisanne M Jenkins, Anjuli S Bodapati, Rajiv P Sharma, Cherise Rosen
OBJECTIVE: The recent dramatic increase in research investigating auditory verbal hallucinations (AVHs) has broadened the former narrow focus on schizophrenia to incorporate additional populations that experience these symptoms. However, an understanding of potential shared mechanisms remains elusive. Based on theories suggesting a failure of top-down cognitive control, we aimed to compare the relationship between AVHs and cognition in two categorical diagnoses of psychosis, schizophrenia and psychotic bipolar disorder...
May 31, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28560483/conditional-loss-of-hepatocellular-hedgehog-signaling-in-female-mice-leads-to-the-persistence-of-hepatic-steroidogenesis-androgenization-and-infertility
#12
Christiane Rennert, Franziska Eplinius, Ute Hofmann, Janina Johänning, Franziska Rolfs, Wolfgang Schmidt-Heck, Reinhardt Guthke, Rolf Gebhardt, Albert M Ricken, Madlen Matz-Soja
The Hedgehog signaling pathway is known to be involved in embryogenesis, tissue remodeling, and carcinogenesis. Because of its involvement in carcinogenesis, it seems an interesting target for cancer therapy. Indeed, Sonidegib, an approved inhibitor of the Hedgehog receptor Smoothened (Smo), is highly active against diverse carcinomas, but its use is also reported to be associated with several systemic side effects. Our former work in adult mice demonstrated hepatic Hedgehog signaling to play a key role in the insulin-like growth factor axis and lipid metabolism...
May 30, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28557265/pharmacokinetic-properties-of-memantine-following-a-single-intraperitoneal-administration-and-multiple-oral-doses-in-euploid-mice-and-in-the-ts65dn-mouse-model-of-down-s-syndrome
#13
Daniella B Victorino, Ilya R Bederman, Alberto C S Costa
Memantine is a drug approved for the treatment of moderate-to-severe Alzheimer's disease (AD), and there is ongoing research on the potential expansion of its clinical applicability. Published data on the pharmacokinetics of memantine in the mouse is still incomplete, particularly for chronic administration regimens and mouse models of specific genetic disorders. Down's syndrome (DS) is a genetic disorder known to affect multiple organs and systems, with the potential to alter significantly drug pharmacokinetics...
May 30, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28555009/acute-regression-in-young-people-with-down-syndrome
#14
Clotilde Mircher, Cécile Cieuta-Walti, Isabelle Marey, Anne-Sophie Rebillat, Laura Cretu, Eliane Milenko, Martine Conte, Franck Sturtz, Marie-Odile Rethore, Aimé Ravel
Abstract: Adolescents and young adults with Down syndrome (DS) can present a rapid regression with loss of independence and daily skills. Causes of regression are unknown and treatment is most of the time symptomatic. We did a retrospective cohort study of regression cases: patients were born between 1959 and 2000, and were followed from 1984 to now. We found 30 DS patients aged 11 to 30 years old with history of regression. Regression occurred regardless of the cognitive level (severe, moderate, or mild intellectual disability (ID))...
May 27, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28554490/candidate-gene-analysis-for-alzheimer-s-disease-in-adults-with-down-syndrome
#15
Joseph H Lee, Annie J Lee, Lam-Ha Dang, Deborah Pang, Sergey Kisselev, Sharon J Krinsky-McHale, Warren B Zigman, José A Luchsinger, Wayne Silverman, Benjamin Tycko, Lorraine N Clark, Nicole Schupf
Individuals with Down syndrome (DS) overexpress many genes on chromosome 21 due to trisomy and have high risk of dementia due to the Alzheimer's disease (AD) neuropathology. However, there is a wide range of phenotypic differences (e.g., age at onset of AD, amyloid β levels) among adults with DS, suggesting the importance of factors that modify risk within this particularly vulnerable population, including genotypic variability. Previous genetic studies in the general population have identified multiple genes that are associated with AD...
May 3, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28535820/predicted-body-weight-relationships-for-protective-ventilation-unisex-proposals-from-pre-term-through-to-adult
#16
Dion C Martin, Glenn N Richards
BACKGROUND: The lung-protective ventilation bundle has been shown to reduce mortality in adult acute respiratory distress syndrome (ARDS). This concept has expanded to other areas of acute adult ventilation and is recommended for pediatric ventilation. A component of lung-protective ventilation relies on a prediction of lean body weight from height. The predicted body weight (PBW) relationship employed in the ARDS Network trial is considered valid only for adults, with a dedicated formula required for each sex...
May 23, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28525373/aquaporins-1-3-and-8-expression-in-irritable-bowel-syndrome-rats-colon-via-nf-%C3%AE%C2%BAb-pathway
#17
Guanqun Chao, Shuo Zhang
OBJECTIVE: Our research was to detect the expression of aquaporins. NF-κB in Irritable bowel syndrome (IBS) rat models' colon so as to find novel pathogenesisof IBS. RESULTS: The expression of AQP1, AQP3, and AQP8 of IBS model group was down-regulated while NF-κB p65 was up-regulated comparing with control group (p < 0.05), and the expression of AQP1, AQP3, and AQP8 of inhibitor group was up-regulated while NF-κB p65 was down-regulated comparing with IBS model group (p < 0...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28523857/arrhythmia-burden-and-related-outcomes-in-eisenmenger-syndrome
#18
Shankar Baskar, Philippa Horne, Samantha Fitzsimmons, Philip R Khoury, Joseph Vettukattill, Koichiro Niwa, Teiji Agaki, Mark Spence, Hisanori Sakazaki, Gruschen Veldtman
BACKGROUND: Patients with Eisenmenger syndrome have a shorter lifespan than the general population. A significant proportion develop arrhythmia and some, sudden death. OBJECTIVE: The aims of this study were to characterize the frequency, type and effects of arrhythmias in adult patients with Eisenmenger's syndrome and to identify risk factors for arrhythmias. METHODS: This retrospective study included patients aged ≥ 18 years of age with Eisenmenger's syndrome from three institutions...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28488382/neuron-specific-knockdown-of-the-drosophila-fat-induces-reduction-of-life-span-deficient-locomotive-ability-shortening-of-motoneuron-terminal-branches-and-defects-in-axonal-targeting
#19
Aya Nakamura, Ryo Tanaka, Kazushige Morishita, Hideki Yoshida, Yujiro Higuchi, Hiroshi Takashima, Masamitsu Yamaguchi
Mutations in FAT4 gene, one of the human FAT family genes, have been identified in Van Maldergem syndrome (VMS) and Hennekam lymphangiectasia-lymphedema syndrome (HS). The FAT4 gene encodes a large protein with extracellular cadherin repeats, EGF-like domains and Laminin G-like domains. FAT4 plays a role in tumor suppression and planar cell polarity. Drosophila contains a human FAT4 homologue, fat. Drosophila fat has been mainly studied with Drosophila eye and wing systems. Here, we specially knocked down Drosophila fat in nerve system...
May 9, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28453471/a-randomized-double-blind-placebo-controlled-phase-ii-study-of-oral-elnd005-scyllo-inositol-in-young-adults-with-down-syndrome-without-dementia
#20
Michael S Rafii, Brian G Skotko, Mary Ellen McDonough, Margaret Pulsifer, Casey Evans, Eric Doran, Gabriela Muranevici, Patrick Kesslak, Susan Abushakra, Ira T Lott
BACKGROUND: ELND005 (scyllo-Inositol; cyclohexane-1,2,3,4,5,6-hexol) has been evaluated as a potential disease-modifying treatment for Alzheimer's disease (AD). Individuals with Down syndrome (DS) have an increased risk for developing AD dementia. OBJECTIVE: To evaluate the safety and tolerability of ELND005 and to determine its pharmacokinetics (PK) and relationship between PK parameters, safety outcome measures, and exploratory efficacy outcome measures in young adults with DS without dementia...
2017: Journal of Alzheimer's Disease: JAD
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