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https://www.readbyqxmd.com/read/28728838/kcnq2-encephalopathy-a-case-due-to-a-de-novo-deletion
#1
Carlotta Spagnoli, Grazia Gabriella Salerno, Alessandro Iodice, Daniele Frattini, Francesco Pisani, Carlo Fusco
KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltage gated potassium channel Kv7.2 and leading to a negative-dominant effect. We present one case experiencing recurrent neonatal seizures with changing hemispheres of origin, reminiscent of epilepsy of infancy with migrating focal seizures. At 9months of age the patient is still seizure-free on carbamazepine, although he is developing a spastic-dystonic tetraplegia with severe dysphagia...
July 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28724333/the-impact-of-acute-management-on-the-occurrence-of-medical-complications-during-the-specialized-spinal-cord-injury-acute-hospitalization-following-motor-complete-cervical-spinal-cord-injury
#2
Andréane Richard-Denis, Debbie Erhmann Feldman, Cynthia Thompson, Jean-Marc Mac-Thiong
CONTEXT/OBJECTIVE: Determine the impact of early admission and complete perioperative management in a specialized spinal cord injury (SCI) trauma center (SCI-center) on the occurrence of medical complications following tetraplegia. DESIGN: A retrospective comparative cohort study of prospectively collected data involving 116 individuals was conducted. Group 1 (N=87) was early managed in a SCI-center promptly after the trauma, whereas Group 2 (N=29) was surgically and preoperatively managed in a non-specialized (NS) center before being transferred to the SCI-center...
July 19, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28695562/medical-use-of-cannabis-in-switzerland-analysis-of-approved-exceptional-licences
#3
Gablu Kilcher, Marcel Zwahlen, Christopher Ritter, Lukas Fenner, Matthias Egger
AIMS OF THE STUDY: In recent years, the Swiss Federal Office of Public Health (FOPH) granted exceptional licenses for the medical use of cannabinoids, typically for 6 months with possible extensions. A systematic review of cannabinoids for medical use commissioned by the FOPH supports the use of cannabinoids for the treatment of chronic pain and spasticity. However, little is known about the patients treated with cannabinoids. We aimed to study medical uses of cannabinoids as part of the FOPH's programme of exceptional licenses...
July 11, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28685100/prevention-of-diving-induced-spinal-cord-injuries-preliminary-results-of-the-first-romanian-mass-media-prophylactic-educational-intervention
#4
Aurelian Anghelescu
STUDY DESIGN: The study was an observational study of the seasonal incidence of diving accidents, according to the summer weather pattern and the influence of an educative prophylactic intervention. OBJECTIVES: The study analyzed the preliminary results of a national project, disseminated on social networking (Facebook) and broadcasted on main national and international Romanian TV channels. SETTING: The study was conducted at the Neurorehabilitation, Teaching Emergency Hospital 'Bagdasar-Arseni...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28677944/heart-rate-response-and-recovery-in-wheelchair-tetraplegic-rugby-athletes-a-pilot-study
#5
Michelle C Coutinho, Patrícia S Vigário, Agnaldo J Lopes, Fernando S Guimarães
BACKGROUND: Subjects with spinal cord injuries (SCI) have impaired autonomic cardiac regulation and increased risk of cardiovascular disease. In face of the insufficient research data on the autonomic control of physically active subjects with SCI, this study aimed at describing the chronotropic response, as well as the heart rate recovery behaviour of a cohort of elite wheelchair rugby athletes. METHODS: This is a cross-sectional study including a convenience sample of 17 elite wheelchair rugby athletes with tetraplegia...
July 5, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28669418/checkpoints-to-progression-qualitative-analysis-of-the%C3%A2-personal-and-contextual-factors-that-influence-selection-of-upper-extremity-reconstruction-among-patients-with-tetraplegia
#6
Chelsea A Harris, John-Michael Muller, Melissa J Shauver, Kevin C Chung
PURPOSE: Patients with tetraplegia consistently rank better use of the upper extremity as their top functional priority. Multiple case series have demonstrated that upper extremity reconstruction (UER) is well-tolerated and can produce substantial functional improvements for appropriate candidates; however, UER remains critically underutilized. The mechanisms that drive differences in provider practice and referral patterns have been studied, but comprehensive examination of the patient factors that influence UER decisions has not been performed for American patients...
July 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28669301/editorial-advancement-in-brain-machine-interfaces-for-patients-with-tetraplegia-neurosurgical-perspective
#7
Kejia Hu, Firas Bounni, Ziv Williams
No abstract text is available yet for this article.
July 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28649492/relationship-between-brainstem-neurodegeneration-and-clinical-impairment-in-traumatic-spinal-cord-injury
#8
Patrick Grabher, Claudia Blaiotta, John Ashburner, Patrick Freund
BACKGROUND: Brainstem networks are pivotal in sensory and motor function and in recovery following experimental spinal cord injury (SCI). OBJECTIVE: To quantify neurodegeneration and its relation to clinical impairment in major brainstem pathways and nuclei in traumatic SCI. METHODS: Quantitative MRI data of 30 chronic traumatic SCI patients (15 with tetraplegia and 15 with paraplegia) and 23 controls were acquired. Patients underwent a full neurological examination...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28647425/use-of-antibiotics-and-the-prevalence-of-antibiotic-associated-diarrhoea-in-patients-with-spinal-cord-injuries-an-international-multicentre-centre-study
#9
Samford Wong, Piera Santullo, Shashivadan P Hirani, Naven Kumar, Joy R Chowdhury, Angel García-Forcada, Marta Recio, Fátima Paz, Ineta Zobina, Sreedhar Kolli, Carlotte Kiekens, Nathalie Draulans, Ellen Roels, Janneke Martens-Bijlsma, Jean O'Driscoll, Ali Jamous, Mofid Saif
BACKGROUND: Little is known about the use of antibiotics and the extent of antibiotic-associated diarrhoea (AAD) in spinal cord injury (SCI) patients. AIMS: To (1) record the use of antibiotics; (2) establish the prevalence of AAD and Clostridium difficile infection (CDI) and (3) assess whether there was any seasonal variation in antibiotic use and incidence of AAD. METHODS: A retrospective study was conducted in six European SCI centres during October 2014 to June 2015...
June 21, 2017: Journal of Hospital Infection
https://www.readbyqxmd.com/read/28635523/long-term-paired-associative-stimulation-enhances-motor-output-of-the-tetraplegic-hand
#10
Aleksandra Tolmacheva, Sarianna Savolainen, Erika Kirveskari, Pantelis Lioumis, Linda Kuusela, Nina Brandstack, Aarne Ylinen, Jyrki P Mäkelä, Anastasia Shulga
A large proportion of spinal cord injuries (SCI) are incomplete. Even in clinically complete injuries, silent non-functional connections can be present. Therapeutic approaches that can strengthen transmission in weak neural connections to improve motor performance are needed. Our aim was to determine whether long-term delivery of paired associative stimulation (PAS, a combination of transcranial magnetic stimulation [TMS] with peripheral nerve stimulation [PNS]) can enhance motor output in the hands of patients with chronic traumatic tetraplegia, and to compare this technique with long-term PNS...
July 21, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28629390/results-of-the-first-interim-analysis-of-the-rapper-ii-trial-in-patients-with-spinal-cord-injury-ambulation-and-functional-exercise-programs-in-the-rex-powered-walking-aid
#11
Nick Birch, Jon Graham, Tom Priestley, Chris Heywood, Mohamed Sakel, Angela Gall, Andrew Nunn, Nada Signal
BACKGROUND: The RAPPER II study investigates the feasibility, safety and acceptability of using the REX self-stabilising robotic exoskeleton in people with spinal cord injury (SCI) who are obligatory wheelchair users. Feasibility is assessed by the completion of transfer into the REX device, competency in achieving autonomous control and completion of upper body exercise in an upright position in the REX device. Safety is measured by the occurrence of serious adverse events. Device acceptability is assessed with a user questionnaire...
June 19, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28628550/visual-and-motor-recovery-after-cognitive-therapeutic-exercises-in-cortical-blindness-a-case-study
#12
Daniele De Patre, Ann Van de Winckel, Franca Panté, Carla Rizzello, Marina Zernitz, Mariam Mansour, Lara Zordan, Thomas A Zeffiro, Erin E OʼConnor, Teresa Bisson, Andrea Lupi, Carlo Perfetti
BACKGROUND AND PURPOSE: Spontaneous visual recovery is rare after cortical blindness. While visual rehabilitation may improve performance, no visual therapy has been widely adopted, as clinical outcomes are variable and rarely translate into improvements in activities of daily living (ADLs). We explored the potential value of a novel rehabilitation approach "cognitive therapeutic exercises" for cortical blindness. CASE DESCRIPTION: The subject of this case study was 48-year-old woman with cortical blindness and tetraplegia after cardiac arrest...
July 2017: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/28628531/costs-and-length-of-stay-for-the-acute-care-of-patients-with-motor-complete-spinal-cord-injury-following-cervical-trauma-the-impact-of-early-transfer-to-specialized-acute-sci-center
#13
Andréane Richard-Denis, Debbie Ehrmann Feldman, Cynthia Thompson, Étienne Bourassa-Moreau, Jean-Marc Mac-Thiong
OBJECTIVE: Acute spinal cord injury (SCI) centers aim to optimize outcome following SCI. However, there is no timeframe to transfer patients from regional to SCI centers in order to promote cost-efficiency of acute care. Our objective was to compare costs and length of stay (LOS) following early and late transfer to the SCI center. DESIGN: A retrospective cohort study involving 116 individuals was conducted. Group 1 (n = 87) was managed in an SCI center promptly after the trauma, whereas group 2 (n = 29) was transferred to the SCI center only after surgery...
July 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28623144/cardiovascular-stress-during-inpatient-spinal-cord-injury-rehabilitation
#14
Dominik Zbogar, Janice J Eng, William C Miller, Andrei V Krassioukov, Mary C Verrier
OBJECTIVES: 1) To measure the amount of a) cardiovascular stress, b) self-reported physical activity and c) accelerometry-measured physical activity by individuals with SCI during physical therapy (PT) and occupational therapy (OT) and, 2) to investigate the relationship between these measures. DESIGN: Observational study. SETTING: Two inpatient SCI rehabilitation centres. PARTICIPANTS: SCI patients (n=87) were recruited from consecutive admissions to rehabilitation...
June 13, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28616261/nerve-entrapment-as-a-cause-of-shoulder-pain-in-the-spinal-cord-injured-patient
#15
Catherine M Curtin, Carl-Goran Hagert, Claes Hultling, Elisabet Hagert
INTRODUCTION: Many people with chronic spinal cord injury (SCI) develop shoulder pain, which can adversely impact transfers and independence. Yet effective treatments remain elusive. CASE PRESENTATION: This report presents two patients with tetraplegia who had long-standing shoulder pain. Our exam showed muscle weakness and point tenderness, suggestive of nerve entrapments of the radial and axillary nerves in the posterior shoulder. These nerves were surgically decompressed and post-operatively the patients' pain resolved...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28611986/scipad-effective-implementation-of-telemedicine-using-ipads-with-individuals-with-spinal-cord-injuries-a-case-series
#16
Kazuko Shem, Samantha J Sechrist, Eleanor Loomis, Linda Isaac
BACKGROUND: Individuals with spinal cord injury (SCI) must often travel long distances to see a rehabilitation specialist. While telemedicine (TM) for pressure ulcer management has been used in this population, real-time video telecommunication using iPad has never been described. OBJECTIVE: The objective of this study was to provide specialized care for persons with SCI through TM consultation expediently in order to address medical needs, manage secondary complications, and to improve quality of life (QoL) of individuals with SCI...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28606436/a-comparative-outcome-study-of-hamstring-versus-tibialis-anterior-and-synthetic-grafts-for-deltoid-to-triceps-transfers
#17
Jennifer A Dunn, Khalid D Mohammed, Gordon P Beadel, Alastair G Rothwell, Jeremy W Simcock
PURPOSE: To assess elbow extension strength and complications after deltoid-triceps transfers using hamstring tendon graft compared with tibialis anterior and synthetic tendon grafts. METHODS: A retrospective review of deltoid-triceps transfers in patients with tetraplegia performed between 1983 and 2014. RESULTS: Seventy-five people (136 arms) had surgery performed, with the majority undergoing simultaneous bilateral surgery (n = 61; 81%)...
June 9, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28597908/chronic-pain-depression-and-quality-of-life-in-individuals-with-spinal-cord-injury-mediating-role-of-participation
#18
Rachel Müller, Gunther Landmann, Markus Béchir, Timo Hinrichs, Ursina Arnet, Xavier Jordan, Martin W G Brinkhof
OBJECTIVE: To test the hypotheses that: (i) pain is associated with depressive symptoms and quality of life; and (ii) participation restriction, satisfaction, and frequency mediate these relationships. DESIGN: Population-based, cross-sectional study. SUBJECTS/PATIENTS: Community-dwelling individuals with spinal cord injury (n = 1,549). METHODS: Hypotheses were tested in individuals with at least moderate chronic pain on the spinal cord injury - Secondary Conditions Scale (n = 834), applying structural equation modelling to data for spinal cord injury subgroups related to lesion severity (paraplegia, tetraplegia, complete, incomplete) and time since injury (≤ 10 vs ≥ 10 years)...
June 8, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28585558/correlates-of-self-reported-physical-function-in-individuals-with-spinal-cord-injuries-and-disorders-does-self-efficacy-matter
#19
J N Hill, B Etingen, S Miskevics, S L LaVela
STUDY DESIGN: Data were collected via a cross-sectional mailed survey with Veterans with spinal cord injury and disorders (SCI/D). OBJECTIVES: To examine self-efficacy in Veterans with SCI/D reporting high versus low perceptions of physical function. SETTING: Department of Veterans Affairs (VA) Spinal Cord Injury System of Care-nation-wide, 24 Spinal Cord Injury (SCI) Centers. METHODS: The survey provided patient-reported data on demographic and injury characteristics, basic mobility and fine motor function, and perceived self-efficacy...
June 6, 2017: Spinal Cord
https://www.readbyqxmd.com/read/28584662/a-rare-case-of-acute-transverse-myelitis-associated-with-staphylococcusaureus-bacteremia-and-osteomyelitis
#20
Stamatis Karakonstantis, Despoina Galani, Sevasti Maragou, Asimina Koulouridi, Dimitra Kalemaki, Charalampos Lydakis
INTRODUCTION: Direct intramedullary infections are considered very rare. Only few reports of Staphylococcus aureus myelitis have been published. CASE PRESENTATION: Our patient, a 79-year-old male, presented with a 2-day history of high-grade fever and high inflammatory markers and progressively developed tetraplegia during hospitalization. Lumbar puncture revealed cerebrospinal fluid pleocytosis and a spinal cord MRI revealed transverse myelitis at the level of C3-C5 and possible osteomyelitis of C5-T1...
2017: Spinal Cord Series and Cases
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