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Joint neurology

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https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#1
Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28740437/the-larynx-ruler-to-measure-height-and-profile-of-vocal-folds-a-proof-of-concept
#2
Gauthier Desuter, Benjamin Mertens, Alain Delchambre, Julie van Lith-Bijl, Peter Paul van Benthem, Elisabeth Sjögren
INTRODUCTION: Glottic leakage during phonation is a direct consequence of unilateral vocal fold (VF) paralysis. This air leakage can be in the horizontal plane and in the vertical plane. Presently, there is no easily applicable medical device allowing noninvasive, office-based measurement of the relative vertical position of the VFs. The larynx ruler (LR) is a laser-based measuring device that could meet the previously stated need, using a flexible endoscope. This study represents a proof of concept regarding the use of the LR in assessing VF relative positions in the vertical plane...
2017: Medical Devices: Evidence and Research
https://www.readbyqxmd.com/read/28738904/increased-interleukin-27-cytokine-expression-in-the-central-nervous-system-of-multiple-sclerosis-patients
#3
Patrice H Lalive, Mario Kreutzfeldt, Odile Devergne, Imke Metz, Wolfgang Bruck, Doron Merkler, Caroline Pot
BACKGROUND: Multiple sclerosis (MS) is an autoimmune disorder characterized by chronic inflammation, demyelination, and neuronal damage. During autoimmunity, cytokines are important mediators of the inflammation. In this line, interleukin-27 (IL-27) modulates inflammation and can be produced directly at inflammatory sites such as in the joints during rheumatoid arthritis or in the central nervous system (CNS) during MS. While in animal models of MS, treatment with IL-27 decreases the disease severity, its role in humans is not clearly established and it is not known if IL-27 could be detected in the cerebrospinal fluid (CSF) of MS patients...
July 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28735126/multilevel-spinal-segmental-fixation-for-kyphotic-cervical-spinal-deformity-in-pediatric-age-group-report-of-management-in-2-cases
#4
Atul Goel, Amol Kaswa, Abhidha Shah, Arjun Dhar
OBJECTIVE: We discuss the role of instability of multiple segments of spine that includes atlantoaxial joint in pathogenesis of cervical kyphotic deformity. MATERIAL AND METHODS: Two male patients (5 and 17 year old) had severe cervical kyphosis and presented with symptoms related to myelopathy. The patients underwent multi-segmental spinal distraction and fixation that included atlantoaxial joint. No bone decompression was done. RESULTS: At a follow-up of more than 30 months, both patients had significant neurological recovery...
July 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28732535/case-report-rare-skeletal-manifestations-in-a-child-with-primary-hyperparathyroidism
#5
Maulee Hiromi Arambewela, Kamani Danushka Liyanarachchi, Noel P Somasundaram, Aruna S Pallewatte, Gamini L Punchihewa
BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum...
July 21, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28728206/-subaxial-cervical-spine-injuries-treatment-recommendations-of-the-german-orthopedic-and-trauma-society
#6
Philipp Schleicher, Matti Scholz, Frank Kandziora, Andreas Badke, Florian Hans Brakopp, Helmut Klaus Friedrich Ekkerlein, Erol Gercek, Rene Hartensuer, Philipp Hartung, Jan-Sven Gilbert Jarvers, Philipp Kobbe, Stefan Matschke, Robert Morrison, Christian W Müller, Miguel Pishnamaz, Maximilian Reinhold, Klaus John Schnake, Gregor Schmeiser, Gregor Stein, Bernhard Ullrich, Thomas Weiß, Volker Zimmermann
In a consensus process during four sessions in 2016, the working group "lower cervical spine" of the German Society for Orthopedic and Trauma Surgery (DGOU), formulated "Therapeutic Recommendations for the Lower Cervical Spine", taking into consideration the current literature. Therapeutic goals are a permanently stable, painless cervical spine and the protection against secondary neurologic damage while retaining the greatest possible amount of motion and spinal profile. Due to its ease of use and its proven good reliability, the AOSpine classification for subaxial cervical injuries should be used...
July 20, 2017: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/28726508/optimizing-mri-logistics-prospective-analysis-of-performance-efficiency-and-patient-throughput
#7
Kevin Beker, Alejandro Garces-Descovich, Jason Mangosing, Ines Cabral-Goncalves, Donna Hallett, Koenraad J Mortele
OBJECTIVE: The objective of this study is to optimize MRI logistics through evaluation of MRI workflow and analysis of performance, efficiency, and patient throughput in a tertiary care academic center. SUBJECTS AND METHODS: For 2 weeks, workflow data from two outpatient MRI scanners were prospectively collected and stratified by value added to the process (i.e., value-added time, business value-added time, or non-value-added time). Two separate time cycles were measured: the actual MRI process cycle as well as the complete length of patient stay in the department...
July 20, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28707192/-geriatrics-or-geriatricization-of-medicine-quo-vadis-geriatrics
#8
REVIEW
G F Kolb
This article examines the question whether and how geriatrics will change in the future and whether in view of the demographic changes the trend will go more in the direction of a further expansion of geriatrics or more towards a geriatricization of individual specialist medical fields. The different development of geriatrics in the individual Federal States can only be understood historically and is absolutely problematic against the background of the new hospital remuneration system. Geriatrics is a typical cross-sectional faculty and still has demarcation problems with other faculties but has also not yet clearly defined the core competence...
July 13, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28706846/arthroscopic-reduction-and-fixation-of-transverse-intra-articular-glenoid-fractures-with-scapular-extension
#9
Anastasios Papadonikolakis
The most common procedure to address transverse glenoid fractures that are characterized by intra-articular step-off or gapping is open reduction and internal fixation. Disadvantages of open surgery are delay in regaining full range of motion, increased approach morbidity, neurovascular complications, and the need for capsulotomy, which delays healing and increases the risk of stiffness. An arthroscopically assisted fracture fixation, as described in this article, is characterized by better visualization of the glenoid articular surface and reduction of the intra-articular fragments under direct vision, which diminishes the chances of residual step-off after fixation...
June 2017: Arthroscopy Techniques
https://www.readbyqxmd.com/read/28706116/training-standards-in-neuroendovascular-surgery-program-accreditation-and-practitioner-certification
#10
REVIEW
Arthur L Day, Adnan H Siddiqui, Philip M Meyers, Tudor G Jovin, Colin P Derdeyn, Brian L Hoh, Howard Riina, Italo Linfante, Osama Zaidat, Aquilla Turk, Jay U Howington, J Mocco, Andrew J Ringer, Erol Veznedaroglu, Alexander A Khalessi, Elad I Levy, Henry Woo, Robert Harbaugh, Steven Giannotta
BACKGROUND AND PURPOSE: Neuroendovascular surgery is a medical subspecialty that uses minimally invasive catheter-based technology and radiological imaging to diagnose and treat diseases of the central nervous system, head, neck, spine, and their vasculature. To perform these procedures, the practitioner needs an extensive knowledge of the anatomy of the nervous system, vasculature, and pathological conditions that affect their physiology. A working knowledge of radiation biology and safety is essential...
July 13, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28705170/can-lokomat-therapy-with-children-and-adolescents-be-improved-an-adaptive-clinical-pilot-trial-comparing-guidance-force-path-control-and-freed
#11
Tabea Aurich-Schuler, Fabienne Grob, Hubertus J A van Hedel, Rob Labruyère
BACKGROUND: Robot-assisted gait therapy is increasingly being used in pediatric neurorehabilitation to complement conventional physical therapy. The robotic device applied in this study, the Lokomat (Hocoma AG, Switzerland), uses a position control mode (Guidance Force), where exact positions of the knee and hip joints throughout the gait cycle are stipulated. Such a mode has two disadvantages: Movement variability is restricted, and patients tend to walk passively. Kinematic variability and active participation, however, are crucial for motor learning...
July 14, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28701942/neural-mechanisms-underlying-conscious-and-unconscious-gaze-triggered-attentional-orienting-in-autism-spectrum-disorder
#12
Wataru Sato, Takanori Kochiyama, Shota Uono, Sayaka Yoshimura, Motomi Toichi
Impaired joint attention represents the core clinical feature of autism spectrum disorder (ASD). Behavioral studies have suggested that gaze-triggered attentional orienting is intact in response to supraliminally presented eyes but impaired in response to subliminally presented eyes in individuals with ASD. However, the neural mechanisms underlying conscious and unconscious gaze-triggered attentional orienting remain unclear. We investigated this issue in ASD and typically developing (TD) individuals using event-related functional magnetic resonance imaging...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28700369/pulsed-radiofrequency-in-chronic-pain
#13
Thibaut Vanneste, Astrid Van Lantschoot, Koen Van Boxem, Jan Van Zundert
PURPOSE OF REVIEW: The increasing number of publications on pulsed radiofrequency (PRF) treatment of chronic pain reflects the interest for this technique. We summarize the literature for PRF in five indications: radicular pain, trigeminal neuralgia (TN), occipital neuralgia, shoulder and knee pain. RECENT FINDINGS: The efficacy and safety of PRF adjacent to the dorsal root ganglion was documented on cervical and on lumbar level.PRF has been used for the treatment of TN...
July 11, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28698386/antagonistic-serotonergic-and-octopaminergic-neural-circuits-mediate-food-dependent-locomotory-behavior-in-caenorhabditis-elegans
#14
Matthew A Churgin, Richard J McCloskey, Emily Peters, Christopher Fang-Yen
Biogenic amines are conserved signaling molecules that link food cues to behavior and metabolism in a wide variety of organisms. In the nematode C. elegans, the biogenic amines serotonin (5-HT) and octopamine regulate a number of food-related behaviors. Using a novel method for long-term quantitative behavioral imaging, we show that 5-HT and octopamine jointly influence locomotor activity and quiescence in feeding and fasting hermaphrodites, and we define the neural circuits through which this modulation occurs...
July 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28694597/management-of-cervical-monoradiculopathy-due-to-prolapsed-intervertebral-disc-an-institutional-experience
#15
Amresh S Bhaganagare, S A Nagesh, B G Shrihari, Vikas Naik, M N Nagarjun, Balaji S Pai
BACKGROUND: Cervical radiculopathy is the common clinical entity, often caused by "wear and tear" changes that occur in the spine. In the younger population, cervical radiculopathy is a result of a disc herniation or an acute injury causing foraminal impingement of an exiting nerve, whereas in the older individuals, it is due to foraminal narrowing from osteophyte formation, decreased disc height, and degenerative changes of the uncovertebral joints anteriorly and of the facet joints posteriorly...
April 2017: Journal of Craniovertebral Junction and Spine
https://www.readbyqxmd.com/read/28693816/anterior-pedicle-spreader-reduction-for-unilateral-cervical-facet-dislocation
#16
Zhengfeng Zhang
OBJECTIVE: The anterior only surgical procedure including discectomy, open reduction and fusion is used as a recommended approach in the treatment of unilateral cervical facet dislocations, but is difficult to achieve satisfactory anterior open reduction by vertebra distractor to spread the facet joints, especially for delayed management of unilateral cervical facet dislocation (7-21days). The goal of this study was to report an anterior pedicle spreader technique to distract directly the facet joint for anterior reduction and the results of 4 patients with successful application and describe safety...
July 6, 2017: Injury
https://www.readbyqxmd.com/read/28690091/-paget-s-disease-of-bone-diagnostic-and-therapeutic-updates
#17
R Alaya, Z Alaya, M Nang, E Bouajina
Paget's disease of bone is the second most common metabolic bone disease after osteoporosis. Its pathogenesis is not yet clearly understood. Geographic distribution and epidemiological variations suggest a role of genetic and environmental factors in its pathophysiology. The frequency of the Paget's disease of bone increases with age. Its discovery can be fortuitous. Prognosis mainly depends on the occurrence of complications involving bones and joints, neurological, cardiovascular or metabolic systems. Treatment of symptomatic forms currently relies on bisphosphonates that have transformed its prognosis...
July 6, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28688932/neurologic-complications-of-shoulder-joint-replacement
#18
Craig M Ball
BACKGROUND: Little attention has been given to neurologic complications after shoulder joint replacement (SJR). Previously thought to occur infrequently, it is likely that many are not clinically recognized, and they can result in postoperative morbidity and impair the patient's recovery. The purpose of this study was to document the prevalence of nerve complications after SJR, to identify the nerves involved, and to define patient outcomes. METHODS: This was a retrospective review of 211 SJRs in 202 patients during a 5-year period were included, with 89 male and 122 female patients at an average age of 70 years...
July 5, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28676359/office-evaluation-of-pelvic-pain
#19
REVIEW
Stacey Bennis, Sarah Hwang
The history and physical examination are important keys to diagnosis and treatment of patients with chronic pelvic pain. The comprehensive history should include questioning regarding patient's pain complaint and a thorough history and review of any body system that may be involved, including neuromusculoskeletal, obstetric, gynecologic, gastrointestinal, urologic, dermatologic, infectious, oncologic, and psychiatric. The physical examination should also follow a focused systems-based approach and includes examination of gastrointestinal, dermatologic, neurologic, and musculoskeletal (including lumbosacral spine, sacroiliac joints, pelvis, and hips) systems, and the pelvic floor (internal and external examination, including neuromuscular anatomy)...
August 2017: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/28675943/do-activity-level-outcome-measures-commonly-used-in-neurological-practice-assess-upper-limb-movement-quality
#20
Marika Demers, Mindy F Levin
BACKGROUND: Movement is described in terms of task-related end point characteristics in external space and movement quality (joint rotations in body space). Assessment of upper-limb (UL) movement quality can assist therapists in designing effective treatment approaches for retraining lost motor elements and provide more detailed measurements of UL motor improvements over time. OBJECTIVE: To determine the extent to which current activity level outcome measures used in neurological practice assess UL movement quality...
July 1, 2017: Neurorehabilitation and Neural Repair
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