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https://www.readbyqxmd.com/read/28577599/molecular-inversion-probes-equipped-with-discontinuous-rolling-cycle-amplification-for-targeting-nucleotide-variants-determining-smn1-and-smn2-genes-in-diagnosis-of-spinal-muscular-atrophy
#1
Hwang-Shang Kou, Chun-Chi Wang
The novel techniques of molecular inversion probes (MIPs) combined with discontinuous rolling cycle amplification (DRCA) was developed for determination of the multi-nucleotide variants at single base. The different-length MIPs, a padlock-probe based technology, are designed to simultaneously recognize the identical nucleotide variants. After ligation and DRCA, the different-length genetic products representing the certain genotypes could be simply determined by the short-end capillary electrophoresis (CE) method...
July 18, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28538340/physical-therapy-for-a-child-with-infantile-idiopathic-scoliosis-and-motor-delay
#2
Rhea K Hall, Mary Jane Rapport
PURPOSE: The purpose of this case report is to describe physical therapy (PT) for a child with infantile idiopathic scoliosis and motor delay. KEY POINTS: A 10-month-old boy with a 28° left thoracolumbar scoliosis was referred for PT and was seen weekly in his home over a 6-month period following a diagnosis of scoliosis and delayed gross motor milestones. Before the initiation of PT, the child was scheduled to undergo serial casting for correction of the spinal curve and was not yet rolling or transitioning in or out of sitting...
July 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28511807/does-the-novel-lateral-trauma-position-cause-more-motion-in-an-unstable-cervical-spine-injury-than-the-logroll-maneuver
#3
Per Kristian Hyldmo, MaryBeth Horodyski, Bryan P Conrad, Sindre Aslaksen, Jo Røislien, Mark Prasarn, Glenn R Rechtine, Eldar Søreide
OBJECTIVE: Prehospital personnel who lack advanced airway management training must rely on basic techniques when transporting unconscious trauma patients. The supine position is associated with a loss of airway patency when compared to lateral recumbent positions. Thus, an inherent conflict exists between securing an open airway using the recovery position and maintaining spinal immobilization in the supine position. The lateral trauma position is a novel technique that aims to combine airway management with spinal precautions...
May 8, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28442203/patterns-of-health-care-use-of-injured-adults-a-population-based-matched-cohort-study
#4
Rebecca J Mitchell, Cate M Cameron, Rod McClure
BACKGROUND: Healthcare use by traumatically injured individuals prior to and subsequent to their injury are not often explored for different types of injuries. This study aims to describe health care use 12 months preceding and 12 months following a traumatic injury by injury type and injury severity. METHOD: Hospital and mortality data from three Australian states were linked in a population-based matched cohort study. Individuals ≥18 years who had an injury-related hospital admission in 2009 were identified as the injured cohort...
April 14, 2017: Injury
https://www.readbyqxmd.com/read/28215241/sleep-disorders-in-spinal-muscular-atrophy
#5
Maria C Pera, Domenico M Romeo, Alessandra Graziano, Concetta Palermo, Sonia Messina, Giovanni Baranello, Giorgia Coratti, Maria Massaro, Serena Sivo, Maria Teresa Arnoldi, Elena S Mazzone, Laura Antonaci, Leonardo Lapenta, Emilio Albamonte, Lavinia Fanelli, Roberto de Sanctis, Gian Luca Vita, Maria Sframeli, Marika Pane, Eugenio Mercuri
OBJECTIVE: To estimate the frequency of sleep disorders in young persons with type 2 and type 3 spinal muscular atrophy (SMA), and to evaluate the relationship between sleep disorders and different variables such as motor impairment, age, use of ventilation, and use of night orthoses. METHODS: A total of 85 young persons (6-25 years of age) with type 2 and type 3 SMA were assessed using the Sleep Disturbance Scale for Children (SDSC), a scale assessing different sleep factors, and the Hammersmith Functional Motor Scale Expanded (HFMSE), a scale evaluating motor impairment...
February 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28048682/su-f-t-188-a-robust-treatment-planning-technique-for-proton-pencil-beam-scanning-cranial-spinal-irradiation
#6
M Zhu, M Yam, M Mehta, S Badiyan, K Young, R Malyapa, W Regine, K Langen
PURPOSE: To propose a proton pencil beam scanning (PBS) cranial spinal irradiation (CSI) treatment planning technique robust against patient roll, isocenter offset and proton range uncertainty. METHOD: Proton PBS plans were created (Eclipse V11) for three previously treated CSI patients to 36 Gy (1.8 Gy/fractions). The target volume was separated into three regions: brain, upper spine and lower spine. One posterior-anterior (PA) beam was used for each spine region, and two posterior-oblique beams (15° apart from PA direction, denoted as 2PO_15) for the brain region...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28048210/su-g-jep1-10-feasibility-of-cyberknife-tracking-using-the-previously-implanted-permanent-brachytherapy-seed-cloud
#7
J Cheung, J Cunha, A Sudhyadhom, C McGuinness, M Roach, M Descovich
PURPOSE: Robotic radiosurgery is a salvage treatment option for patients with recurrent prostate cancer. We explored the feasibility of tracking the bolus of permanent prostate implants (PPI) using image recognition software optimized to track spinal anatomy. METHODS: Forty-five inert iodine seeds were implanted into a gelatin-based prostate phantom. Four superficial gold seeds were inserted to provide ground-truth alignment. A CT scan of the phantom (120 kVp, 1 mm slice thickness) was acquired and a single-energy iterative metal artifact reduction (MAR) algorithm was used to enhance the quality of the DRR used for tracking...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/27921118/can-different-occlusal-positions-instantaneously-impact-spine-and-body-posture-a-pilot-study-using-rasterstereography-for-a-three-dimensional-evaluation
#8
Karoline März, Werner Adler, Ragai-Edward Matta, Linda Wolf, Manfred Wichmann, Bastian Bergauer
PURPOSE: Orthodontists influence dental occlusion directly. To suggest any link between dental occlusion and body posture is highly contentious, as evidenced by the literature. Rasterstereography, an optical technique that enables three-dimensional (3D) body measurements to be collected, has not yet been used to impartially examine whether different occlusal positions could instantaneously alter spine and body posture. We therefore set out to use this technique to nonsubjectively evaluate this question under static conditions...
December 5, 2016: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/27769560/developmental-milestones-in-type-i-spinal-muscular-atrophy
#9
Roberto De Sanctis, Giorgia Coratti, Amy Pasternak, Jacqueline Montes, Marika Pane, Elena S Mazzone, Sally Dunaway Young, Rachel Salazar, Janet Quigley, Maria C Pera, Laura Antonaci, Leonardo Lapenta, Allan M Glanzman, Danilo Tiziano, Francesco Muntoni, Basil T Darras, Darryl C De Vivo, Richard Finkel, Eugenio Mercuri
The aim of this retrospective multicentric study was to assess developmental milestones longitudinally in type I SMA infants using the Hammersmith Infant Neurological Examination. Thirty-three type I SMA infants, who classically do not achieve the ability to sit unsupported, were included in the study. Our results confirmed that all patients had a score of 0 out of a scale of 4 on items assessing sitting, rolling, crawling, standing or walking. A score of more than 0 was only achieved in three items: head control (n = 13), kicking (n = 15) and hand grasp (n = 18)...
November 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27664403/evaluating-the-functionality-and-usability-of-two-novel-wheelchair-anti-rollback-devices-for-ramp-ascent-in-manual-wheelchair-users-with-spinal-cord-injury
#10
Susan L Deems-Dluhy, Chandrasekaran Jayaraman, Steve Green, Mark V Albert, Arun Jayaraman
BACKGROUND: Difficulty ascending ramps and inclines with a manual wheelchair adversely affects the everyday mobility and overall quality of life of manual wheelchair users. Currently, various anti-rollback devices are available to assist manual wheelchair users to ascend ramps and inclines. However, these devices have 2 main shortcomings: restriction to backward motion limiting recovery from an overturning wheelchair, which is a safety concern; and difficulty in engaging/disengaging the device while on the ramp...
September 21, 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27640345/assimilation-of-virtual-legs-and-perception-of-floor-texture-by-complete-paraplegic-patients-receiving-artificial-tactile-feedback
#11
Solaiman Shokur, Simone Gallo, Renan C Moioli, Ana Rita C Donati, Edgard Morya, Hannes Bleuler, Miguel A L Nicolelis
Spinal cord injuries disrupt bidirectional communication between the patient's brain and body. Here, we demonstrate a new approach for reproducing lower limb somatosensory feedback in paraplegics by remapping missing leg/foot tactile sensations onto the skin of patients' forearms. A portable haptic display was tested in eight patients in a setup where the lower limbs were simulated using immersive virtual reality (VR). For six out of eight patients, the haptic display induced the realistic illusion of walking on three different types of floor surfaces: beach sand, a paved street or grass...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27586110/quantitative-evaluation-of-the-occupant-kinematic-response-of-the-thums-50th-percentile-male-model-relative-to-pmhs-laboratory-rollover-tests
#12
David Poulard, Qi Zhang, Jack Ryan Cochran, Bronislaw Gepner, Jason Kerrigan
OBJECTIVE: The objective of the current study was to evaluate the whole-body kinematic response of the Total Human Model for Safety (THUMS) occupant model in controlled laboratory rollover tests by comparing the model response to postmortem human surrogate (PMHS) kinematic response targets published in 2014. METHODS: A computational model of the parametric vehicle buck environment was developed and the AM50 THUMS occupant model (Ver 4.01) was subjected to a pure dynamic roll at 360°/s in trailing-side front-row seating position...
September 2016: Traffic Injury Prevention
https://www.readbyqxmd.com/read/27531116/-the-new-findings-of-high-myopia-by-swept-source-optical-coherence-tomography
#13
REVIEW
Y Y Liu, Q H Han
The fundus disease of high myopia, one of the main reasons leading to visual impairment, includes different types of the retinal, choroidal and scleral changes, and in particular the macular and optic disc lesions. Due to technical limitations, it is relatively difficult to study the characteristics of the sclera and the choroid in humans in vivo. The swept-source optical coherence tomography, with the long wave swept laser as a light source, has less sensitivity roll-off with the tissue depth, which makes it possible to check the choroid and the sclera...
July 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27432028/reliability-and-comparison-of-spinal-end-range-motion-assessment-using-a-skin-surface-device-in-participants-with-and-without-low-back-pain
#14
Jason Zafereo, Sharon Wang-Price, Jace Brown, Evan Carson
OBJECTIVE: The purposes of this study were to determine the reliability of using a skin-surface device to measure global and segmental thoracic and lumbar spine motion in participants with and without low back pain (LBP) and to compare global thoracic and lumbar motion between the 2 groups. METHODS: Forty participants were included in the study (20 adults with LBP and 20 age- and sex-matched adults without LBP). On the same day, 2 raters independently measured thoracic and lumbar spine motion by rolling a skin-surface device along the spine from C7 to S3, with participants at their end range of standing flexion and extension...
July 2016: Journal of Manipulative and Physiological Therapeutics
https://www.readbyqxmd.com/read/27171255/a-multisite-quality-improvement-project-to-standardize-the-assessment-of-pressure-ulcer-healing-in-veterans-with-spinal-cord-injuries-disorders
#15
Susan S Thomason, Gail Powell-Cope, Matthew J Peterson, Marylou Guihan, Erik S Wallen, Christine M Olney, Barbara Bates-Jensen
OBJECTIVE: The objective was to implement the evidence-based Spinal Cord Impairment Pressure Ulcer Monitoring Tool (SCI-PUMT) in 23 Spinal Cord Injury/Disorders Centers (SCI/D) in the Veterans Health Administration (VHA). SETTING: A collaborative was held in Minnesota that was attended by key personnel from SCI/D Centers in the VHA. METHODS: This initiative was based on a 3-year longitudinal study that established the validity and reliability of a novel pressure ulcer monitoring tool for persons with spinal cord impairment...
June 2016: Advances in Skin & Wound Care
https://www.readbyqxmd.com/read/27082602/anterior-reduction-discectomy-and-three-cortical-iliac-bone-grafting-with-instrumentation-to-treat-a-huge-tear-drop-fracture-of-the-axis-a-case-report-and-literature-review
#16
Litai Ma, Yi Yang, Quan Gong, Chen Ding, Hao Liu, Ying Hong
Fractures of the axis body have been little reported and treatment strategies remain controversial and individualized. Not more than 10 cases of huge tear drop fracture of the axis (HTDFA) have been reported in previous studies and the treatment method varies from conservative treatment to an anterior, or posterior, approach surgery. Considering the sparse knowledge of HTDFA, we present a special case report to share our experience and to explore the safety and effectiveness of anterior reduction and fusion to treat HTDFA...
April 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27009158/decreased-otolith-mediated-vestibular-response-in-25-astronauts-induced-by-long-duration-spaceflight
#17
Emma Hallgren, Ludmila Kornilova, Erik Fransen, Dmitrii Glukhikh, Steven T Moore, Gilles Clément, Angelique Van Ombergen, Hamish MacDougall, Ivan Naumov, Floris L Wuyts
The information coming from the vestibular otolith organs is important for the brain when reflexively making appropriate visual and spinal corrections to maintain balance. Symptoms related to failed balance control and navigation are commonly observed in astronauts returning from space. To investigate the effect of microgravity exposure on the otoliths, we studied the otolith-mediated responses elicited by centrifugation in a group of 25 astronauts before and after 6 mo of spaceflight. Ocular counterrolling (OCR) is an otolith-driven reflex that is sensitive to head tilt with regard to gravity and tilts of the gravito-inertial acceleration vector during centrifugation...
June 1, 2016: Journal of Neurophysiology
https://www.readbyqxmd.com/read/26934672/evaluation-of-five-tests-for-sensitivity-to-functional-deficits-following-cervical-or-thoracic-dorsal-column-transection-in-the-rat
#18
Nitish D Fagoe, Callan L Attwell, Ruben Eggers, Lizz Tuinenbreijer, Dorette Kouwenhoven, Joost Verhaagen, Matthew R J Mason
The dorsal column lesion model of spinal cord injury targets sensory fibres which originate from the dorsal root ganglia and ascend in the dorsal funiculus. It has the advantages that fibres can be specifically traced from the sciatic nerve, verifiably complete lesions can be performed of the labelled fibres, and it can be used to study sprouting in the central nervous system from the conditioning lesion effect. However, functional deficits from this type of lesion are mild, making assessment of experimental treatment-induced functional recovery difficult...
2016: PloS One
https://www.readbyqxmd.com/read/26890423/recovery-times-of-stance-and-gait-balance-control-after-an-acute-unilateral-peripheral-vestibular-deficit
#19
John H J Allum, Flurin Honegger
BACKGROUND: Acute unilateral peripheral vestibular deficit (aUPVD) patients have balance deficits that can improve after several weeks. Determining differences in vestibulo-spinal reflex (VSR) influences on balance control and vestibular ocular reflex (VOR) responses with peripheral recovery and central compensation would provide insights into CNS plasticity mechanisms. Also, clinically, knowing when balance control is approximately normal again should contribute to decisions about working ability after aUPVD...
2016: Journal of Vestibular Research: Equilibrium & Orientation
https://www.readbyqxmd.com/read/26700769/cd43-functions-as-an-e-selectin-ligand-for-th17-cells-in-vitro-and-is-required-for-rolling-on-the-vascular-endothelium-and-th17-cell-recruitment-during-inflammation-in-vivo
#20
Francisco Velázquez, Anna Grodecki-Pena, Andrew Knapp, Ane M Salvador, Tania Nevers, Kevin Croce, Pilar Alcaide
Endothelial E- and P-selectins mediate lymphocyte trafficking in inflammatory processes by interacting with lymphocyte selectin ligands. These are differentially expressed among different T cell subsets and function alone or in cooperation to mediate T cell adhesion. In this study, we characterize the expression and functionality of E-selectin ligands in Th type 17 lymphocytes (Th17 cells) and report that CD43 functions as a Th17 cell E-selectin ligand in vitro that mediates Th17 cell rolling on the vascular endothelium and recruitment in vivo...
February 1, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
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