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https://www.readbyqxmd.com/read/28449304/a-case-of-familial-transmission-of-the-newly-described-dnmt3a-overgrowth-syndrome
#1
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, Marie-Ange Delrue
DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. This autosomal dominant condition is characterized by overgrowth, dysmorphic facial features and moderate intellectual disability. Missense and truncating point mutations, a small in-frame deletion, as well as microdeletion 2p23 have been reported. Moreover, DNMT3A is commonly somatically mutated in acute myeloid leukemia. We herein report a family with two siblings and their father affected by the syndrome...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28448504/impaired-sense-of-agency-in-functional-movement-disorders-an-fmri-study
#2
Fatta B Nahab, Prantik Kundu, Carine Maurer, Qian Shen, Mark Hallett
The sense of agency (SA) is an established framework that refers to our ability to exert and perceive control over our own actions. Having an intact SA provides the basis for the human perception of voluntariness, while impairments in SA are hypothesized to lead to the perception of movements being involuntary that may be seen many neurological or psychiatric disorders. Individuals with functional movement disorders (FMD) experience a lack of control over their movements, yet these movements appear voluntary by physiology...
2017: PloS One
https://www.readbyqxmd.com/read/28440950/the-need-to-know-the-information-needs-of-parents-of-infants-with-an-intellectual-disability-a-qualitative-study
#3
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/28439957/prognostic-indicators-in-pediatric-clinically-isolated-syndrome
#4
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/28437598/the-potential-implications-of-using-disability-free-survival-and-number-needed-to-suffer-as-outcome-measures-for-neonatal-intensive-care
#5
Per-Arne Lönnqvist
The use of mortality and surrogate makers to determine outcomes after advanced medical treatment has been questioned, because often these dimensions do not agree with what both many medical staff and laypeople judge as adequate outcome measures. That is why Myles et al introduced the more adequate dimension of disability free survival (1-3). Furthermore, the suffering of other patients that is associated with one single individual having a good outcome has been discussed and the suggested term for this is the number needed to suffer (4), which reflects the similar terms of number needed to treat and number needed to harm...
April 24, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28434187/ultrasound-guided-intra-articular-injection-of-the-radio-ulnar-radio-humeral-joints-and-ultrasound-guided-dry-needling-of-the-affected-limb-muscles-to-relieve-fixed-pronation-deformity-and-myofascial-issues-around-the-shoulder-in-a-case-of-complex-regional
#6
Renuka Pai, Lakshmi Vas
BACKGROUND: Complex Regional Pain Syndrome (CRPS) occurs due to different pathophysiological mechanisms. Presently there is no description of definitive treatment that can resolve the especially recalcitrant motor issues of disability in CRPS-1. CASE REPORT: We have herein described the successful management of motor disability with a multi-modal approach in a patient with CRPS-1 that occurred as a result of a fracture sustained in the lower end of the radius. Sensory/sudomotor/vasomotor symptoms were relieved completely by medications and stellate ganglion block, in two weeks...
April 23, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28433793/what-does-handedness-reveal-about-adhd-an-analysis-based-on-cpt-performance
#7
Eunice N Simões, Ana Lucia Novais Carvalho, Sergio L Schmidt
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a developmental disorder. Continuous performance Tests (CPTs) aid the diagnosis. Handedness is linked to disabilities. OBJECTIVES: 1-To study the association between handedness and ADHD; 2-To verify the usefulness of the CPT in school settings; 3-To exam the relationship between handedness and CPT performance. METHOD: Each child was classified as right-consistent, left-consistent, or non-consistent...
April 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28429375/patient-characteristics-and-outcomes-related-to-successful-outpatient-competency-restoration
#8
Amy J Mikolajewski, Gina M Manguno-Mire, Kelly L Coffman, Sarah M Deland, John W Thompson
Criminal defendants have a fundamental right to a fair and speedy trial. However, individuals found incompetent to stand trial are unable to move forward in the adjudication process and are often mired in protracted legal proceedings. If competency restoration is statutorily permissible and can be conducted in the outpatient setting, we propose that it should be considered based on burgeoning empirical data. We present data from an outpatient forensic clinic in which individuals are conditionally released to receive competency restoration in the community...
April 20, 2017: Behavioral Sciences & the Law
https://www.readbyqxmd.com/read/28427338/-working-is-out-of-the-question-a-qualitative-text-analysis-of-medical-certificates-of-disability
#9
Guri Aarseth, Bård Natvig, Eivind Engebretsen, Anne Kveim Lie
BACKGROUND: Medical certificates influence the distribution of economic benefits in welfare states; however, the qualitative aspects of these texts remain largely unexplored. The present study is the first systematic investigation done of these texts. Our aim was to investigate how GPs select and mediate information about their patients' health and how they support their conclusions about illness, functioning and fitness for work in medical certificates. METHODS: We performed a textual analysis of thirty-three medical certificates produced by general practitioners (GP) in Norway at the request of the Norwegian Labour and Welfare Administration (NAV)...
April 20, 2017: BMC Family Practice
https://www.readbyqxmd.com/read/28427306/prefrontal-tdcs-and-sertraline-in-obsessive-compulsive-disorder-a-case-report-and-review-of-the-literature
#10
Ulrich Palm, Bianka Leitner, Beatrice Kirsch, Nora Behler, Ulrike Kumpf, Linda Wulf, Frank Padberg, Alkomiet Hasan
Obsessive-compulsive (OC) disorder is a disabling disorder resulting in tremendous individual and social burden. It has a large overlap with depression and anxiety disorders and shows treatment resistance in a relevant proportion of patients. Since a couple of years, different noninvasive brain stimulation methods have been investigated to improve OC symptoms. The application of transcranial direct current stimulation (tDCS) has shown inconsistent results which can probably be attributed to a lack in randomized controlled trials with adequate sample size...
April 21, 2017: Neurocase
https://www.readbyqxmd.com/read/28425581/clinical-biochemical-and-genetic-features-of-41-han-chinese-families-with-primary-hypertrophic-osteoarthropathy-and-their-therapeutic-response-to-etoricoxib-results-from-a-6-months-prospective-clinical-intervention
#11
Shan-Shan Li, Jin-We He, Wen-Zhen Fu, Yu-Juan Liu, Yun-Qiu Hu, Zhen-Lin Zhang
Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in prostaglandin metabolism pathway; disturbed prostaglandin E2 (PGE2 ) catabolism resulting in increased PGE2 levels is suggested in the pathogenesis. Forty-three Han Chinese patients with PHO were studied and 41 of them were treated. Mutations in HPGD gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1; OMIM 259100), were identified in 7 patients, and mutations in SLCO2A1 gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2; OMIM 614441), were identified in 36 patients...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28425173/the-20-year-outcome-and-association-between-early-treatment-and-mortality-and-disability-in-an-inception-cohort-of-patients-with-rheumatoid-arthritis-results-from-the-norfolk-arthritis-register
#12
James M Gwinnutt, Deborah Pm Symmons, Alexander J MacGregor, Jacqueline R Chipping, Tarnya Marshall, Mark Lunt, Suzanne Mm Verstappen
Objective - To describe the outcome of patients with rheumatoid arthritis (RA) over 20 years from symptom onset; to assess the association between early treatment (DMARDs/steroids) and mortality and disability over follow-up. Methods - Patients from the Norfolk Arthritis Register recruited from 1990-94 who met the 2010 ACR/EULAR RA criteria at baseline were included in this analysis. Demographic/clinical variables were collected at baseline and years 1-3, 5, 7, 10, 15 and 20. Disease activity (swollen/tender joint counts (SJC/TJC)), disability (HAQ) and mortality over 20 years are described...
April 20, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28422409/validation-of-the-japanese-version-of-the-fremantle-back-awareness-questionnaire-in-patients-with-low-back-pain
#13
Tomokiko Nishigami, Akira Mibu, Katsuyoshi Tanaka, Yuh Yamashita, Michele Eisemann Shimizu, Bennedict Wand, Mark J Catley, Tasha R Stanton, G Lorimer Moseley
BACKGROUND: There is a growing interest in the role of disturbed body perception in people with persistent pain problems such as chronic low back pain (CLBP). A questionnaire, the Fremantle Back Awareness Questionnaire (FreBAQ), was recently developed as a simple and quick way of assessing disturbed perceptual awareness of the back in people with CLBP and appears to have acceptable psychometric properties. The aim of the present study was to develop a Japanese version of the FreBAQ (FreBAQ-J) and evaluate its psychometric properties in a sample of Japanese people with low back pain (LBP)...
April 18, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28421684/navigating-the-rolling-hills-of-justice-mental-disabilities-employment-and-the-evolving-jurisprudence-of-the-americans-with-disabilities-act
#14
Lauren Wylonis, Nina T Wylonis, Robert Sadoff
Mental illness and disability affect millions of individuals yearly in the U.S. The most important legislation protecting the mentally disabled in the workplace in the U.S. over the last half century has been the Americans with Disabilities Act (ADA) and its associated legislation and guidance. Although the employee should first request reasonable accommodation with the employer, evaluation by a mental health professional is one of the initial steps for individuals who report significant psychiatric symptoms that are impairing their functioning at work in the U...
March 2017: Behavioral Sciences & the Law
https://www.readbyqxmd.com/read/28420954/multiple-kernel-based-region-importance-learning-for-neural-classification-of-gait-states-from-eeg-signals
#15
Yuhang Zhang, Saurabh Prasad, Atilla Kilicarslan, Jose L Contreras-Vidal
With the development of Brain Machine Interface (BMI) systems, people with motor disabilities are able to control external devices to help them restore movement abilities. Longitudinal validation of these systems is critical not only to assess long-term performance reliability but also to investigate adaptations in electrocortical patterns due to learning to use the BMI system. In this paper, we decode the patterns of user's intended gait states (e.g., stop, walk, turn left, and turn right) from scalp electroencephalography (EEG) signals and simultaneously learn the relative importance of different brain areas by using the multiple kernel learning (MKL) algorithm...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28419697/defensive-high-anxious-individuals-demonstrate-different-responses-to-pain-management-to-those-with-lower-levels-of-defensiveness-and-anxiety
#16
Zoe C Franklin, Neil E Fowler
OBJECTIVES: Few studies have considered the effect of Weinberger et al.'s personality types on the management of pain. The aims of this study were to (i) identify whether the relationships between pain intensity, cognitive factors and disability at three and six months post baseline differs as a result of personality type; and (ii) identify whether personality type affects the likelihood of achieving a minimal clinical important change (MCIC) in pain intensity or disability at three and six months...
April 18, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28419559/impact-of-the-global-burden-of-periodontal-diseases-on-health-nutrition-and-wellbeing-of-mankind-a-call-for-global-action
#17
Maurizio S Tonetti, Søren Jepsen, Lijian Jin, Joan Otomo-Corgel
BACKGROUND: The global burden of periodontal diseases remains high. Population growth trends, changes in risk factors and improved tooth retention will increase the socio-economic burden of periodontitis that is responsible for 3,5 million years lived with disability, 54 billion USD/year in lost productivity and a major portion of the 442 billion USD/year cost for oral diseases. METHODS: In the context of the Milan World Exhibition 2015 "Feeding the Planet, Energy for Life", a green paper was developed and offered for global consultation by the European Federation of Periodontology...
April 17, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28419505/assisted-dying-disability
#18
Christopher A Riddle
This article explores at least two dominant critiques of assisted dying from a disability rights perspective. In spite of these critiques, I conclude that assisted dying ought to be permissible. I arrive at the conclusion that if we respect and value people with disabilities, we ought to permit assisted dying. I do so in the following manner. First, I examine recent changes in legislation that have occurred since the Royal Society of Canada Expert Panel on End-of-Life Decision-Making report, published in this journal...
April 17, 2017: Bioethics
https://www.readbyqxmd.com/read/28415166/holmes-tremor-with-shoulder-pain-treated-by-deep-brain-stimulation-of-unilateral-ventral-intermediate-thalamic-nucleus-and-globus-pallidus-internus
#19
Sabri Aydın, Huseyin Canaz, Ezgi Tuna Erdogan, Nazlı Durmaz, Barıs Topcular
A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor. Neurologic examination revealed a disabling, severe, and irregular kinetic and postural tremor in the right arm during target-directed movements. There was also an irregular ipsilateral rest tremor and dystonic movements in the distal part of the right arm. The amplitude was moderate at rest and extremely high during kinetic and intentional movements...
April 18, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28414868/protective-effects-of-diallyl-sulphide-against-ethanol-induced-injury-in-rat-adipose-tissue-and-primary-human-adipocytes
#20
Venkata Harini Kema, Imran Khan, Reshma Jamal, Sandeep Kumar Vishwakarma, Chandrakala Lakki Reddy, Kirti Parwani, Farhin Patel, Dhara Patel, Aleem A Khan, Palash Mandal
BACKGROUND: Alcohol consumption is the fourth leading cause of death and disability worldwide. Several cellular pathways contribute to alcohol mediated tissue injury. Adipose tissue apart from being functioning as an endocrine organ secretes several hormones and cytokines known as adipokines that are known to play a significant role in alcohol induced tissue damage. OBJECTIVE: This study was designed to test the efficacy of diallyl sulphide (DAS) in regulating the alcohol induced outcomes on adipose tissue...
April 17, 2017: Alcoholism, Clinical and Experimental Research
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