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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441773/overview-of-four-functional-classification-systems-commonly-used-in-cerebral-palsy
#2
REVIEW
Andrea Paulson, Jilda Vargus-Adams
Cerebral palsy (CP) is the most common physical disability in childhood. CP comprises a heterogeneous group of disorders that can result in spasticity, dystonia, muscle contractures, weakness and coordination difficulty that ultimately affects the ability to control movements. Traditionally, CP has been classified using a combination of the motor type and the topographical distribution, as well as subjective severity level. Imprecise terms such as these tell very little about what a person is able to do functionally and can impair clear communication between providers...
April 24, 2017: Children
https://www.readbyqxmd.com/read/28441686/surgical-and-functional-outcomes-after-multilevel-cervical-fusion-for-degenerative-disc-disease-compared-with-fusion-for-radiculopathy-a-study-of-workers-compensation-population
#3
Mhamad Faour, Joshua T Anderson, Arnold R Haas, Rick Percy, Stephen T Woods, Uri M Ahn, Nicholas U Ahn
STUDY DESIGN: Retrospective cohort comparative study. OBJECTIVE: To evaluate presurgical and surgical factors that affect return to work (RTW) status after multilevel cervical fusion, and to compare outcomes after multilevel cervical fusion for degenerative disc disease (DDD) versus radiculopathy. SUMMARY OF BACKGROUND DATA: Cervical fusion provides more than 90% of symptomatic relief for radiculopathy and myelopathy. However, cervical fusion for DDD without radiculopathy is considered controversial...
May 1, 2017: Spine
https://www.readbyqxmd.com/read/28441668/evaluation-and-management-of-orofacial-pain
#4
Stephanie Joseph Gilkey, Francisco Plaza-Villegas
Challenging to diagnose and manage, orofacial pain is a common and costly problem with a profound effect on quality of life. Delayed diagnosis and management can lead to prolonged patient suffering and disability. This article describes the background, assessment, differential diagnosis, management, and referral of patients with orofacial pain.
May 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28441335/systematic-review-of-cognitive-behavioural-therapy-for-social-anxiety-disorder-in-psychosis
#5
REVIEW
Maria Michail, Max Birchwood, Lynda Tait
BACKGROUND: Social anxiety is highly prevalent among people with psychosis and linked with significant social disability and poorer prognosis. Although cognitive-behavioural therapy (CBT) has shown to be effective for the treatment of social anxiety in non-psychotic populations, there is a lack of evidence on the clinical effectiveness of CBT for the treatment of social anxiety when this is co-morbid in psychosis. METHODS: A systematic review to summarise and critically appraise the literature on the effectiveness of CBT interventions for the treatment of social anxiety in psychosis...
April 25, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28441333/how-are-service-dogs-for-adults-with-post-traumatic-stress-disorder-integrated-with-rehabilitation-in-denmark-a-case-study
#6
Chalotte Glintborg, Tia G B Hansen
A severe mental illness like Post Traumatic Stress Disorder (PTSD) is known to have psychosocial consequences that can lead to a decreased quality of life. Research in Animal-Assisted Therapy (AAT) has revealed that the presence of a dog can have a positive effect on health, e.g., increase quality of life and lessen depression and anxiety. However, canine companionship is not a catch-all solution. Previous research has revealed methodological limitations that prohibit any clear conclusions, as well as a sparsity of critical reflection in anecdotal reports and case studies, which means that more research is needed to contextualize the findings...
April 25, 2017: Animals: An Open Access Journal From MDPI
https://www.readbyqxmd.com/read/28441324/designing-fit-for-purpose-health-and-social-services-for-ageing-populations
#7
Jean Woo
Population ageing is occurring in all countries, regardless of the level of economic development. While the rising burden of chronic diseases and disabilities as a consequence of this demographic transition is well recognized, the increasing prevalence of geriatric syndromes as a public health issue is not as well recognized. Recently the World Health Organization's World Health and Ageing Report emphasized functional ability as an important outcome for aging populations, highlighting the concept of raising intrinsic capacity throughout the life course...
April 25, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28441315/an-overview-of-chronic-spinal-pain-revisiting-diagnostic-categories-and-exploring-an-evolving-role-for-neurostimulation
#8
Ashwini Sharan, Jonathan Riley, Christian Hoelscher
STUDY DESIGN: Topic Overview OBJECTIVE.: To describe the varied etiologies resulting in chronic spinal pain and review the current available evidence for treatments. SUMMARY OF BACKGROUND DATA: Chronic pain conditions, especially those that affect the axial back and radiate to the extremities, affect a large population. This results in pronounced disability and a high socioeconomic burden. Our understanding of the underlying mechanisms for chronic pain is limited...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28441294/effects-of-myofascial-release-in-nonspecific-chronic-low-back-pain-a-randomized-clinical-trial
#9
María D Arguisuelas, Juan Francisco Lisón, Daniel Sánchez-Zuriaga, Isabel Martínez-Hurtado, Julio Doménech-Fernández
STUDY DESIGN: Double-blind, randomized parallel sham-controlled trial with concealed allocation and intention-to treat analysis. OBJECTIVE: To investigate the effects of an isolate myofascial release (MFR) protocol on pain, disability, and fear-avoidance beliefs in patients with chronic low back pain (CLBP). SUMMARY OF BACKGROUND DATA: MFR is a form of manual medicine widely used by physiotherapists in the management of different musculoskeletal pathologies...
May 1, 2017: Spine
https://www.readbyqxmd.com/read/28440950/the-need-to-know-the-information-needs-of-parents-of-infants-with-an-intellectual-disability-a-qualitative-study
#10
Tracy Douglas, Bernice Redley, Goetz Ottmann
AIM: To explore the information needs of parents of infants with an intellectual disability in the first year of life. BACKGROUND: Parents whose infant has an intellectual disability need access to information if they are to facilitate optimal care for their child. A lack of timely, accurate information provision by health professionals, particularly nurses and midwives, can increase parental stress and hinder access to the supports they and their infant require...
April 25, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#11
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28440858/treatment-with-disease-modifying-drugs-for-people-with-a-first-clinical-attack-suggestive-of-multiple-sclerosis
#12
REVIEW
Graziella Filippini, Cinzia Del Giovane, Marinella Clerico, Omid Beiki, Miriam Mattoscio, Federico Piazza, Sten Fredrikson, Irene Tramacere, Antonio Scalfari, Georgia Salanti
BACKGROUND: The treatment of multiple sclerosis has changed over the last 20 years. The advent of disease-modifying drugs in the mid-1990s heralded a period of rapid progress in the understanding and management of multiple sclerosis. With the support of magnetic resonance imaging early diagnosis is possible, enabling treatment initiation at the time of the first clinical attack. As most of the disease-modifying drugs are associated with adverse events, patients and clinicians need to weigh the benefit and safety of the various early treatment options before taking informed decisions...
April 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28440840/professionals-perceptions-of-factors-affecting-implementation-and-continuation-of-a-physical-activity-promotion-programme-in-rehabilitation-a-qualitative-study
#13
Femke Hoekstra, Florentina J Hettinga, Marjolein den Breejen, Marjo Duijf, Lucas H V van der Woude, Rienk Dekker, Cees P van der Schans
OBJECTIVE: To describe professionals' perceptions of factors that facilitate or hamper the implementation and continuation of a physical activity promotion programme in rehabilitation. DESIGN: This study used a qualitative design. METHODS: Semi-structured interviews (n = 22) were conducted with rehabilitation professionals (n = 28) involved in the implementation of a physical activity promotion programme. Two additional interviews were conducted with the programme coordinators (n = 2)...
April 21, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28440839/refugee-health-and-rehabilitation-challenges-and-response
#14
Fary Khan, Bhasker Amatya
BACKGROUND: The current global refugee crisis poses major challenges in providing effective healthcare to refugees, particularly for non-communicable diseases (NCDs) management and disability. This article provides an overview of refugee health and potential challenges from the rehabilitation perspective. METHODS: A literature search (both academic and grey literature) was conducted using medical and health science electronic databases and internet search engines (2001-2016)...
April 21, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28440815/15q11-2-cnv-affects-cognitive-structural-and-functional-correlates-of-dyslexia-and-dyscalculia
#15
M O Ulfarsson, G B Walters, O Gustafsson, S Steinberg, A Silva, O M Doyle, M Brammer, D F Gudbjartsson, S Arnarsdottir, G A Jonsdottir, R S Gisladottir, G Bjornsdottir, H Helgason, L M Ellingsen, J G Halldorsson, E Saemundsen, B Stefansdottir, L Jonsson, V K Eiriksdottir, G R Eiriksdottir, G H Johannesdottir, U Unnsteinsdottir, B Jonsdottir, B B Magnusdottir, P Sulem, U Thorsteinsdottir, E Sigurdsson, D Brandeis, A Meyer-Lindenberg, H Stefansson, K Stefansson
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia...
April 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28440252/adjustment-to-acquired-vision-loss-in-adults-presenting-for-visual-disability-certification
#16
Aditya Nakade, Jolly Rohatgi, Manjeet S Bhatia, Upreet Dhaliwal
CONTEXT: Rehabilitation of the visually disabled depends on how they adjust to loss; understanding contributing factors may help in effective rehabilitation. AIM: The aim of this study is to assess adjustment to acquired vision loss in adults. SETTINGS AND DESIGN: This observational study, conducted in the Department of Ophthalmology at a tertiary-level teaching hospital, included thirty persons (25-65 years) with <6/60 in the better eye, and vision loss since ≥6-months...
March 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28440095/what-does-the-literature-say-about-using-robots-on-children-with-disabilities
#17
Antonio Miguel Cruz, Adriana María Ríos Rincón, William Ricardo Rodríguez Dueñas, Daniel Alejandro Quiroga Torres, Andrés Felipe Bohórquez-Heredia
PURPOSE: The purpose of this study is to examine the extent and type of robots used for the rehabilitation and education of children and young people with CP and ASD and the associated outcomes. METHODS: The scholarly literature was systematically searched and analyzed. Articles were included if they reported the results of robots used or intended to be used for the rehabilitation and education of children and young people with CP and ASD during play and educative and social interaction activities...
April 25, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28440001/treating-low-back-pain-with-combined-cerebral-and-peripheral-electrical-stimulation-a-randomized-double-blind-factorial-clinical-trial
#18
F A Hazime, A F Baptista, D G de Freitas, R L Monteiro, R L Maretto, R H Hasue, S M A João
BACKGROUND: Recent evidence suggests that chronic low back pain is associated with plastic changes in the brain that can be modified by neuromodulation strategies. This study investigated the efficacy of transcranial direct current stimulation (tDCS) combined simultaneously with peripheral electrical stimulation (PES) for pain relief, disability and global perception in patients with chronic low back pain (CLBP). METHODS: Ninety-two patients with CLBP were randomized to receive 12 sessions on nonconsecutive days of anodal tDCS (primary motor cortex, M1), 100 Hz sensory PES (lumbar spine), tDCS + PES or sham tDCS + PES...
April 25, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28439957/prognostic-indicators-in-pediatric-clinically-isolated-syndrome
#19
Pietro Iaffaldano, Marta Simone, Giuseppe Lucisano, Angelo Ghezzi, Gabriella Coniglio, Vincenzo Brescia Morra, Giuseppe Salemi, Francesco Patti, Alessandra Lugaresi, Guillermo Izquierdo, Roberto Bergamaschi, Jose Antonio Cabrera-Gomez, Carlo Pozzilli, Enrico Millefiorini, Raed Alroughani, Cavit Boz, Eugenio Pucci, Giovanni Bosco Zimatore, Patrizia Sola, Giacomo Lus, Davide Maimone, Carlo Avolio, Eleonora Cocco, Seyed Aidin Sajedi, Gianfranco Costantino, Pierre Duquette, Vahid Shaygannejad, Thor Petersen, Ricardo Fernández Bolaños, Damiano Paolicelli, Carla Tortorella, Tim Spelman, Lucia Margari, Maria Pia Amato, Giancarlo Comi, Helmut Butzkueven, Maria Trojano
OBJECTIVE: To assess prognostic factors for a second clinical attack and a first disability worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of Multiple Sclerosis (MS) patients. METHODS: A cohort of 770 pCIS patients was followed-up for at least 10 years. Cox proportional hazard models and RECursive Partitioning and AMalgamation (RECPAM) tree-regression were used to analyze data. RESULTS: In pCIS, female sex and a multifocal onset were risk factors for a second clinical attack (HR, 95% CI: 1...
April 25, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28439889/prevalence-and-characteristics-of-autism-spectrum-disorders-in-children-with-cerebral-palsy
#20
Malika Delobel-Ayoub, Dana Klapouszczak, Marit Maria Elisabeth van Bakel, Karen Horridge, Solveig Sigurdardottir, Kate Himmelmann, Catherine Arnaud
AIM: To evaluate the prevalence of co-occurring autism spectrum disorders (ASDs) among children with cerebral palsy (CP), and to describe their characteristics. METHOD: The data of 1225 CP cases from four population-based registers (Iceland, Sweden, and two in France) and one population-based surveillance programme (North East England, UK) participating in the Surveillance of Cerebral Palsy in Europe Network (SCPE) were analysed. The ASD diagnoses were systematically recorded using category F84 of the International Classification of Diseases, 10th Revision...
April 25, 2017: Developmental Medicine and Child Neurology
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