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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/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#2
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#3
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334783/amitriptyline-for-musculoskeletal-complaints-a-systematic-review
#4
Jacoline J van den Driest, Sita M A Bierma-Zeinstra, Patrick J E Bindels, Dieuwke Schiphof
Background.: The role of amitriptyline in musculoskeletal pain is not as clearly defined as in classical neuropathic pain conditions. Objective.: To assess the efficacy and effectiveness of amitriptyline in the treatment of pain in musculoskeletal complaints. Methods.: An extensive search (including Medline, Embase and Web of Science) was made up to April 2016 for randomised controlled trials on amitriptyline in musculoskeletal complaints compared to placebo, usual care, or other analgesic use...
January 30, 2017: Family Practice
https://www.readbyqxmd.com/read/28334762/missense-uros-mutations-causing-congenital-erythropoietic-porphyria-reduce-uros-homeostasis-that-can-be-rescued-by-proteasome-inhibition
#5
Jean-Marc Blouin, Ganeko Bernardo-Seisdedos, Emma Sasso, Julie Esteve, Cécile Ged, Magalie Lalanne, Arantza Sanz-Parra, Pedro Urquiza, Hubert de Verneuil, Oscar Millet, Emmanuel Richard
Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cutaneous photosensitivity. We analyzed here the molecular basis of UROS impairment associated with twenty nine UROS missense mutations actually described in CEP patients. Using a computational and biophysical joint approach we predicted that most disease-causing mutations would affect UROS folding and stability...
February 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334638/targeted-physical-activity-messages-for-parents-of-children-with-disabilities-a-qualitative-investigation-of-parents-informational-needs-and-preferences
#6
R L Bassett-Gunter, R J Ruscitti, A E Latimer-Cheung, J L Fraser-Thomas
BACKGROUND AND AIM: Physical activity (PA) has myriad benefits for children with disabilities (CWD). Information and messaging campaigns can promote PA among CWD. The overall purpose of the study was to gain an understanding of the development of PA information and messages targeting parents of CWD. The specific objectives were to identify parents' preferences regarding PA information and messaging content and preferred methods and sources of communication. METHOD: Focus groups were conducted with parents of CWD (N=28)...
March 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28334558/feasibility-and-added-value-of-executive-walkrounds-in-long-term-care-organizations-in-the-netherlands
#7
Loes van Dusseldorp, Getty Huisman-de Waal, Hub Hamers, Gert Westert, Lisette Schoonhoven
BACKGROUND: Currently available tools for the management of safety in health care are largely based on quantitative management information. Executive WalkRounds (WalkRounds [WR]) seems useful as a leadership tool to detect "soft signals"-alerts of unsafe situations or practices-and to enhance the mutual trust between frontline staff and the board of directors. The majority of the research on WR has been performed in hospitals. Therefore, a study was conducted to assess how the boards of directors of long term care organizations value WR as a leadership tool to perceive soft signals, and whether soft signals are of added value to enhance patient safety...
December 2016: Joint Commission Journal on Quality and Patient Safety
https://www.readbyqxmd.com/read/28334398/maintenance-of-social-anxiety-in-stuttering-a-cognitive-behavioral-model
#8
Lisa Iverach, Ronald M Rapee, Quincy J J Wong, Robyn Lowe
Purpose: Stuttering is a speech disorder frequently accompanied by anxiety in social-evaluative situations. A growing body of research has confirmed a significant rate of social anxiety disorder among adults who stutter. Social anxiety disorder is a chronic and disabling anxiety disorder associated with substantial life impairment. Several influential models have described cognitive-behavioral factors that contribute to the maintenance of social anxiety in nonstuttering populations. The purpose of the present article is to apply these leading models to the experience of social anxiety for people who stutter...
March 23, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28334052/identifying-fallers-among-ophthalmic-patients-using-classification-tree-methodology
#9
Paolo Melillo, Ada Orrico, Franco Chirico, Leandro Pecchia, Settimio Rossi, Francesco Testa, Francesca Simonelli
PURPOSE: To develop and validate a tool aiming to support ophthalmologists in identifying, during routine ophthalmologic visits, patients at higher risk of falling in the following year. METHODS: A group of 141 subjects (age: 73.2 ± 11.4 years), recruited at our Eye Clinic, underwent a baseline ophthalmic examination and a standardized questionnaire, including lifestyles, general health, social engagement and eyesight problems. Moreover, visual disability was assessed by the Activity of Daily Vision Scale (ADVS)...
2017: PloS One
https://www.readbyqxmd.com/read/28333753/blind-spot
#10
Diane Stonecipher
Understanding a disabled son's vulnerability as a state of grace.
April 2017: American Journal of Nursing
https://www.readbyqxmd.com/read/28333513/feedback-in-group-psychotherapy-for-eating-disorders-a-randomized-clinical-trial
#11
Annika Helgadóttir Davidsen, Stig Poulsen, Jane Lindschou, Per Winkel, Marjun Frígerð Tróndarson, Mette Waaddegaard, Marianne Lau
OBJECTIVE: To investigate the effect of client feedback in group psychotherapy on attendance and treatment outcome for patients with eating disorders. METHOD: We conducted a randomized clinical trial with central randomization stratified for diagnosis and treatment type according to a computer-generated allocation sequence concealed to the investigators. One-hundred and 59 adult participants, diagnosed with bulimia nervosa, binge eating disorder, or eating disorder not otherwise specified according to DSM-IV, were included...
March 23, 2017: Journal of Consulting and Clinical Psychology
https://www.readbyqxmd.com/read/28333510/comparing-treatments-for-children-with-adhd-and-word-reading-difficulties-a-randomized-clinical-trial
#12
Leanne Tamm, Carolyn A Denton, Jeffery N Epstein, Christopher Schatschneider, Heather Taylor, L Eugene Arnold, Oscar Bukstein, Julia Anixt, Anson Koshy, Nicholas C Newman, Jan Maltinsky, Patricia Brinson, Richard E A Loren, Mary R Prasad, Linda Ewing-Cobbs, Aaron Vaughn
OBJECTIVE: This trial compared attention-deficit/hyperactivity disorder (ADHD) treatment alone, intensive reading intervention alone, and their combination for children with ADHD and word reading difficulties and disabilities (RD). METHOD: Children (n = 216; predominantly African American males) in Grades 2-5 with ADHD and word reading/decoding deficits were randomized to ADHD treatment (medication + parent training), reading treatment (reading instruction), or combined ADHD + reading treatment...
March 23, 2017: Journal of Consulting and Clinical Psychology
https://www.readbyqxmd.com/read/28333378/muscle-and-limb-mechanics
#13
George A Tsianos, Gerald E Loeb
Understanding of the musculoskeletal system has evolved from the collection of individual phenomena in highly selected experimental preparations under highly controlled and often unphysiological conditions. At the systems level, it is now possible to construct complete and reasonably accurate models of the kinetics and energetics of realistic muscles and to combine them to understand the dynamics of complete musculoskeletal systems performing natural behaviors. At the reductionist level, it is possible to relate most of the individual phenomena to the anatomical structures and biochemical processes that account for them...
March 16, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28332488/parkinson-disease
#14
REVIEW
Werner Poewe, Klaus Seppi, Caroline M Tanner, Glenda M Halliday, Patrik Brundin, Jens Volkmann, Anette-Eleonore Schrag, Anthony E Lang
Parkinson disease is the second-most common neurodegenerative disorder that affects 2-3% of the population ≥65 years of age. Neuronal loss in the substantia nigra, which causes striatal dopamine deficiency, and intracellular inclusions containing aggregates of α-synuclein are the neuropathological hallmarks of Parkinson disease. Multiple other cell types throughout the central and peripheral autonomic nervous system are also involved, probably from early disease onwards. Although clinical diagnosis relies on the presence of bradykinesia and other cardinal motor features, Parkinson disease is associated with many non-motor symptoms that add to overall disability...
March 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28332372/efficacy-and-safety-of-different-aceclofenac-treatments-for-chronic-lower-back-pain-prospective-randomized-single-center-open-label-clinical-trials
#15
Jae Ho Yang, Kyung Soo Suk, Byung Ho Lee, Woo Chul Jung, Young Mi Kang, Ji Hye Kim, Hak Sun Kim, Hwan Mo Lee, Seong Hwan Moon
PURPOSE: Nonsteroidal anti-inflammatory drugs are a mainstay for medical treatment of chronic lower back pain (CLBP). Increased dose intervals for medication have been associated with increased patient adherence to prescriptions. The purpose of this clinical trial was to compare the efficacy and safety of a once daily dose of aceclofenac controlled release (CR) and a twice daily dose of aceclofenac for CLBP management. MATERIALS AND METHODS: A prospective, randomized, single center, open-label clinical trial was performed to compare the efficacy and safety of aceclofenac CR (200 mg once daily) to aceclofenac dose (100 mg twice daily)...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28332320/interpersonal-relationships-of-older-adults-with-an-intellectual-disability-in-ireland
#16
Darren McCausland, Philip McCallion, Damien Brennan, Mary McCarron
BACKGROUND: People with intellectual disability tend to have smaller social networks than other groups, with even those living in community-based residences comparatively worse off. MATERIALS AND METHODS: Analysis of data from the Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing (IDS-TILDA) (n = 701) examined measures of interpersonal relationships and interactions. Predictors of family contact and having non-resident friends were also explored...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332313/-with-a-touch-of-a-button-staff-perceptions-on-integrating-technology-in-an-irish-service-provider-for-people-with-intellectual-disabilities
#17
Stacy Clifford Simplican, Carolyn Shivers, June Chen, Geraldine Leader
BACKGROUND: People with intellectual disabilities continue to underutilize technology, in part due to insufficient training. Because support staff professionals provide instructional support, how they perceive integrating new technologies is important for people with intellectual disabilities. METHOD: The authors conducted a sequential mixed-methods exploratory study (quan→QUAL) including quantitative data from online surveys completed by 46 staff members and qualitative data from five focus groups attended by 39 staff members...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332285/early-detection-of-dementia-in-people-with-an-intellectual-disability-a-german-pilot-study
#18
Bettina Kuske, Christian Wolff, Uwe Gövert, Sandra Verena Müller
BACKGROUND: This study investigated the application of a newly developed neuropsychological assessment, the Wolfenbütteler Dementia Test for Individuals with Intellectual Disabilities (WDTIM) in combination with the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID). METHODS: The instruments were evaluated in a prospective 2-year follow-up study. A total of 102 people with an intellectual disability were assessed at 6-month intervals...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#19
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28332261/a-systematic-review-of-the-effectiveness-of-psychological-approaches-in-the-treatment-of-sex-offenders-with-intellectual-disabilities
#20
Emma Jones, Eddie Chaplin
BACKGROUND: Despite considerable advance and growth in the evidence base for psychological interventions as treatment for sex offenders with intellectual disabilities (ID), there remains limited evidence to support their effectiveness. This systematic review seeks to evaluate the effectiveness of psychological interventions on reducing reoffending rates for sex offenders with ID. METHODS: A search of ten electronic databases, grey literature and reference lists was conducted using PRISMA methodology...
March 23, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
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