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https://www.readbyqxmd.com/read/28101372/lessons-i-have-learned-from-my-patients-everyday-life-with-primary-orthostatic-tremor
#1
Marie Vidailhet, Emmanuel Roze, Lucie Maugest, Cécile Gallea
BACKGROUND: Primary orthostatic tremor is a rare disorder that is still under-diagnosed or misdiagnosed. Motor symptoms are fairly characteristics but the real impact on the patient's every day life and quality of life is under-estimated. The "how my patients taught me" format describes the impact on the patients' every day life with their own words, which is rarely done. CASE PRESENTATION: A 46 year old lady was diagnosed primary orthostatic tremor (POT) based on the cardinal symptoms: feelings of instability, leg tremor and fear of falling in the standing position, improvement with walking and disappearance while sitting, frequency of Tremor in the 13-18Hz range, normal neurological examination...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28100089/assistive-technology-outcomes-in-post-secondary-students-with-disabilities-the-influence-of-diagnosis-gender-and-class-level
#2
Matt P Malcolm, Marla C Roll
This study investigated how outcomes of assistive technology (AT) services for college students with disabilities are influenced by diagnosis, gender and class-level (e.g., Freshman). Students' pre- and post-intervention ratings of their performance and satisfaction of common academic tasks (using the Canadian Occupational Performance Measure, COPM) were analyzed, as well as students' responses on a survey about AT service provision, use, and preferences. Data from 455 students revealed "learning disability" to be the most prevalent diagnosis (38%), similar numbers of females and males served, and Freshmen (23...
January 19, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28099760/clinical-behavioural-and-social-indicators-for-poor-glycaemic-control-around-the-time-of-transfer-to-adult-care-a-longitudinal-study-of-126-young-people-with-diabetes
#3
P Castensøe-Seidenfaden, A Kryger Jensen, H Smedegaard, E Hommel, G Reventlov Husted, U Pedersen-Bjergaard, G Teilmann
AIMS: To describe and compare changes in glycaemic control in young people with Type 1 diabetes over time between the last 2 years in paediatric care and the first 2 years in adult care and to identify risk factors for poor glycaemic control. METHODS: Our retrospective cohort study followed participants aged 14-22 years from 2 years before to 2 years after transfer from paediatric to adult care. Changes in glycaemic control were calculated using repeated measurements...
January 18, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28097997/the-4c-framework-for-making-reasonable-adjustments-for-people-with-learning-disabilities
#4
Daniel Marsden, Rachel Giles
Background People with learning disabilities experience significant inequalities in accessing healthcare. Legal frameworks, such as the Equality Act 2010, are intended to reduce such disparities in care, and require organisations to make 'reasonable adjustments' for people with disabilities, including learning disabilities. However, reasonable adjustments are often not clearly defined or adequately implemented in clinical practice. Aim To examine and synthesise the challenges in caring for people with learning disabilities to develop a framework for making reasonable adjustments for people with learning disabilities in hospital...
January 18, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28096960/estrogen-agonist-genistein-differentially-influences-the-cognitive-and-motor-disorders-in-an-ovariectomized-animal-model-of-parkinsonism
#5
Elaheh Arbabi, Gholamali Hamidi, Sayyed Alireza Talaei, Mahmoud Salami
OBJECTIVES: Parkinson's disease (PD) is a progressive neurological disorder associated with motor disabilities and cognitive dysfunction as well. Evidence indicates that PD occurs less frequently in women than men, confirming a role for steroid hormones in protection of dopaminergic nigrostriatal neurons. It is reported that soy genistein, an estrogen agonist phytoestrogen, display neuroprotective effects against neuronal death. In this study we evaluated the effect of genistein in animal models of Parkinsonism (P) and Parkinsonism + ovariectomized (OP)...
December 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28093507/mosaic-expression-of-atrx-in-the-central-nervous-system-causes-memory-deficits
#6
Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
The rapid modulation of chromatin organization is thought to play a critical role in cognitive processes such as memory consolidation. This is supported in part by the dysregulation of many chromatin remodeling proteins in neurodevelopmental and psychiatric disorders. A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and non-syndromic intellectual disability (ID). The consequences of Atrx inactivation on learning and memory have been difficult to evaluate due to the early lethality of hemizygous-null animals...
January 12, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28087337/tunicamycin-impairs-olfactory-learning-and-synaptic-plasticity-in-the-olfactory-bulb
#7
Jia Tong, Fumino Okutani, Yoshihiro Murata, Mustuo Taniguchi, Toshiharu Namba, Yu-Jie Wang, Hideto Kaba
Tunicamycin (TM) induces endoplasmic reticulum (ER) stress and inhibits N-glycosylation in cells. ER stress is associated with neuronal death in neurodegenerative disorders, such as Parkinson's disease and Alzheimer's disease, and most patients complain of the impairment of olfactory recognition. Here we examined the effects of TM on aversive olfactory learning and the underlying synaptic plasticity in the main olfactory bulb (MOB). Behavioral experiments demonstrated that the intrabulbar infusion of TM disabled aversive olfactory learning without affecting short-term memory...
January 10, 2017: Neuroscience
https://www.readbyqxmd.com/read/28086958/biofeedback-interventions-for-people-with-cerebral-palsy-a-systematic-review-protocol
#8
Alexander MacIntosh, Nicolas Vignais, Elaine Biddiss
BACKGROUND: Cerebral palsy is a life-long disability that affects motor control and activities of daily living. Depending on the type of cerebral palsy, some individuals may have trouble performing tasks with one or both of their arms and/or legs. Different strategies exist to help develop motor capacity. Biofeedback therapy is a commonly applied rehabilitation strategy. In biofeedback therapy, information about the motor behavior while completing a task is given back to the individual to help improve their performance...
January 13, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28074887/association-analysis-of-dyslexia-candidate-genes-in-a-dutch-longitudinal-sample
#9
Amaia Carrion-Castillo, Ben Maassen, Barbara Franke, Angelien Heister, Marlies Naber, Aryan van der Leij, Clyde Francks, Simon E Fisher
Dyslexia is a common specific learning disability with a substantive genetic component. Several candidate genes have been proposed to be implicated in dyslexia susceptibility, such as DYX1C1, ROBO1, KIAA0319, and DCDC2. Associations with variants in these genes have also been reported with a variety of psychometric measures tapping into the underlying processes that might be impaired in dyslexic people. In this study, we first conducted a literature review to select single nucleotide polymorphisms (SNPs) in dyslexia candidate genes that had been repeatedly implicated across studies...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28073351/exploring-neurodevelopmental-outcome-measures-used-in-children-with-cerebral-malaria-the-perspectives-of-caregivers-and-health-workers-in-malawi
#10
Emmie W Mbale, Terrie Taylor, Bernard Brabin, Macpherson Mallewa, Melissa Gladstone
BACKGROUND: Progress has been made in tackling malaria however there are still over 207 million cases worldwide, the majority in children. As survival rates improve, numbers of children with long-term neurodisabling sequelae are likely to increase. Most outcome studies in cerebral malaria (CM) have focused only on body function and structure and less on outcomes within the broader framework of the International Classification of Functioning and Disability (ICF). The aim of this study was to utilise qualitative methods to identify relevant clinical outcomes in CM to support formulation of a core outcome set relevant to CM and other acquired brain injuries for use in future clinical trials...
January 10, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28071689/haploinsufficiency-of-ehmt1-improves-pattern-separation-and-increases-hippocampal-cell-proliferation
#11
Marco Benevento, Charlotte A Oomen, Alexa E Horner, Houshang Amiri, Tessa Jacobs, Charlotte Pauwels, Monica Frega, Tjitske Kleefstra, Maksym V Kopanitsa, Seth G N Grant, Timothy J Bussey, Lisa M Saksida, Catharina E E M Van der Zee, Hans van Bokhoven, Jeffrey C Glennon, Nael Nadif Kasri
Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. Previously, Ehmt1(+/-) heterozygous knockout mice were found to exhibit cranial abnormalities and decreased sociability, phenotypes similar to those observed in Kleefstra syndrome patients. In addition, Ehmt1(+/-) knockout mice were impaired at fear extinction and novel- and spatial object recognition...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28069663/cybercycling-effects-on-classroom-behavior-in-children-with-behavioral-health-disorders-an-rct
#12
April Bowling, James Slavet, Daniel P Miller, Sebastien Haneuse, William Beardslee, Kirsten Davison
BACKGROUND AND OBJECTIVES: Exercise is linked with improved cognition and behavior in children in clinical and experimental settings. This translational study examined if an aerobic cybercycling intervention integrated into physical education (PE) resulted in improvements in behavioral self-regulation and classroom functioning among children with mental health disabilities attending a therapeutic day school. METHODS: Using a 14-week crossover design, students (N = 103) were randomly assigned by classroom (k = 14) to receive the 7-week aerobic cybercycling PE curriculum during fall 2014 or spring 2015...
January 9, 2017: Pediatrics
https://www.readbyqxmd.com/read/28068291/particle-swarm-optimization-for-programming-deep-brain-stimulation-arrays
#13
Edgar Peña, Simeng Zhang, Steve Deyo, YiZi Xiao, Matthew D Johnson
OBJECTIVE: Deep brain stimulation (DBS) therapy relies on both precise neurosurgical targeting and systematic optimization of stimulation settings to achieve beneficial clinical outcomes. One recent advance to improve targeting is the development of DBS arrays (DBSAs) with electrodes segmented both along and around the DBS lead. However, increasing the number of independent electrodes creates the logistical challenge of optimizing stimulation parameters efficiently. APPROACH: Solving such complex problems with multiple solutions and objectives is well known to occur in biology, in which complex collective behaviors emerge out of swarms of individual organisms engaged in learning through social interactions...
February 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28067109/depression-literacy-in-women-attending-university-hospital-clinics-in-riyadh-saudi-arabia
#14
Amna Rehana Siddiqui, Sarah Mahasin, Roa Alsajjan, Marwah Hassounah, Zeinah Alhalees, Norah AlSaif, Fahad D Alosaimi, AlJohara AlQuaiz
BACKGROUND: Depression literacy in general population constitutes an ability to understand depression, with knowledge of disease, its risk factors and symptoms. High levels of depression literacy promote early intervention, potentially reducing related disability. AIM: This study investigated the depression literacy in women visitors to clinics of a tertiary care hospital in Riyadh, Saudi Arabia. METHODS: Women of 18 and more years were surveyed during their visit to primary and other healthcare clinics of a public hospital in Riyadh...
January 1, 2017: International Journal of Social Psychiatry
https://www.readbyqxmd.com/read/28059879/the-implementation-challenge-and-the-learning-health-system-for-sci-initiative
#15
Gerold Stucki, Jerome Bickenbach
The paper introduces the special issue by linking the International Spinal Cord Injury (InSCI) Community Survey study to the Learning Health System for SCI Initiative (LHS-SCI). The LHS-SCI was designed to respond to the implementation challenge of bringing about policy reform in light of the targeted policy recommendations of World Health Organization's International Perspectives on SCI report as well as the call for action of WHO's Global Disability Action Plan. The paper reviews the components of LHS-SCI relevant to internationally comparable information, a theory of change to guide for action, and the tools for evidence-informed policy...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28059878/the-cross-cultural-societal-response-to-sci-health-and-related-systems
#16
Diana Pacheco Barzallo, Mirja H Gross-Hemmi
OBJECTIVE: The Learning Health System for Spinal Cord Injury (LHS-SCI) is an initiative aligned with the World Health Organization's (WHO) Global Disability Action Plan. Based on the outcomes of this initiative, countries will be able to shape their health systems to better respond to the needs of persons with SCI. This paper describes and compares the macroeconomic situation and societal response to SCI across 27 countries from all 6 WHO regions that will participate in the LHS-SCI initiative...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28059876/study-protocol-of-the-international-spinal-cord-injury-insci-community-survey
#17
Mirja H Gross-Hemmi, Marcel W M Post, Cristina Ehrmann, Christine Fekete, Nazirah Hasnan, James W Middleton, Jan D Reinhardt, Vegard Strøm, Gerold Stucki
OBJECTIVE: The Learning Health System for Spinal Cord Injury (LHS-SCI) is an initiative embedded in the World Health Organization's (WHO's) Global Disability Plan and requires the statistical collection of data on the lived experience of persons with SCI to consequently formulate recommendations and policies. The International Spinal Cord Injury (InSCI) community survey has been developed as an initial step to gain information about the lived experience of persons with SCI within and across diverse nations...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28059865/efferent-vision-therapy
#18
Janet C Rucker, Paul H Phillips
BACKGROUND: Traditional orthoptic therapy used by ophthalmologists, orthoptists, and optometrists is directed at improving visual acuity, ocular alignment, or both. For example, convergence exercises are used to treat convergence insufficiency (CI). However, other forms of "vision therapy" are directed at improving "visual processing and efficiency." The therapeutic regimen often entails repetitive ocular motor tasks performed during multiple office visits with a behavioral optometrist...
January 4, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28057534/altered-fronto-striatal-functions-in-the-gdi1-null-mouse-model-of-x-linked-intellectual-disability
#19
Lorenzo Morè, Basil Künnecke, Latefa Yekhlef, Andreas Bruns, Antonella Marte, Ernesto Fedele, Veronica Bianchi, Stefano Taverna, Silvia Gatti, Patrizia D'Adamo
RAB-GDP dissociation inhibitor 1 (GDI1) loss-of-function mutations are responsible for a form of non-specific X-linked Intellectual Disability (XLID) where the only clinical feature is cognitive impairment. GDI1 patients are impaired in specific aspects of executive functions and conditioned response, which are controlled by fronto-striatal circuitries. Previous molecular and behavioral characterization of the Gdi1-null mouse revealed alterations in the total number/distribution of hippocampal and cortical synaptic vesicles as well as hippocampal short-term synaptic plasticity, and memory deficits...
January 3, 2017: Neuroscience
https://www.readbyqxmd.com/read/28057529/genetic-inhibition-of-anaplastic-lymphoma-kinase-rescues-cognitive-impairments-in-neurofibromatosis-1-mutant-mice
#20
Joseph B Weiss, Sydney J Weber, Eileen Ruth S Torres, Tessa Marzulla, Jacob Raber
Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations occur in approximately 90% of patients with neurofibromatosis. A major, disabling phenotypic consequence of reduced NF1 function is cognitive impairment; a possibly related behavioral phenotype is impaired sleep. Recent results in Drosophila have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 for both associative learning and sleep. Inhibition of Alk improves associative learning and sleep in heterozygous NF1 mutant flies...
January 3, 2017: Behavioural Brain Research
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