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https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#1
Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni, Zhi-Ying Wu
BACKGROUND: Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic. METHODS: Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated...
February 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28211292/clinical-and-functional-outcome-of-open-primary-repair-of-triangular-fibrocartilage-complex-tears-associated-with-distal-radius-fractures
#2
Faisal Johandi, Sreedharan Sechachalam
PURPOSE: We evaluate the clinical and functional outcome of open primary repair of acute TFCC tears in distal radius fracture, when there is gross intraoperative distal radioulnar joint (DRUJ) instability after fixation of the distal radius, in the absence of an ulnar styloid fracture or when the ulnar fracture fragment is too small to be fixed. METHODS: A retrospective review of our institution's distal radius fracture database over a 4-year period (January 2010 to December 2013)...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28203329/pseudotumor-cerebri-as-the-first-manifestation-of-juvenile-systemic-lupus-erythematosus
#3
Seyed-Reza Raeeskarami, Leila Shahbaznejad, Raheleh Assari, Yahya Aghighi
INTRODUCTION: Headache is a common neuropsychiatric manifestation of juvenile systemic lupus erythematous (JSLE). Pseudotumor cerebri (PTC) is an uncommon cause of headache, presenting especially in active JSLE. In this paper, we report a case of missed intractable headache that was eventually diagnosed as PTC and presented as the first manifestation of JSLE. CASE PRESENTATION: A 9-year-old girl with a history of progressive headache for four months, fever, fatigue, myalgia, arthralgia, small-joint arthritis of the hands, and recent diplopia was referred to our clinic...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28185755/the-james-a-rand-young-investigator-s-award-administrative-claims-vs-surgical-registry-capturing-outcomes-in-total-joint-arthroplasty
#4
Joseph T Patterson, David Sing, Erik N Hansen, Bobby Tay, Alan Zhang
BACKGROUND: Administrative claims in total joint arthroplasty are used for observational studies and payment adjustments under the Comprehensive Care for Joint Replacement (CJR) legislation. Claims data have not been validated against prospective surgical outcome registries for primary total hip (THA) or knee arthroplasty (TKA). We hypothesized that significant differences in reported comorbidity and adverse event measures exist between administrative claims and prospective registry data relevant to payment adjudication under the CJR reimbursement model...
February 6, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28164059/neuropathic-knee-joint-a-complication-of-syrinx-following-spinal-anesthesia-a-rare-case-report-and-review-of-literature
#5
S Swaroop Chandra, J K Giriraj Harshavardhan, Ganesan G Ram, P V Vijayaraghavan
INTRODUCTION: Neurological complications due to spinal anesthesia are dysesthesia, paresthesia, cauda equina syndrome, and neuropathic joint. However, neurological complications are rare. We report a case of neuropathic joint of knee as a complication of syrinx following postspinal anesthesia. CASE REPORT: A 33-year-old female came with complaints of pain and instability of her left knee and left foot drop. She had developed weakness of her left lower limb following her cesarean section surgery done under spinal anesthesia...
September 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#6
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28153614/internal-maxillary-artery-preoperative-embolization-using-nbca-and-pushable-coils-for-temporomandibular-joint-ankylosis-surgery-technical-note
#7
Yazan J Alderazi, Darshan Shastri, John Wessel, Melvin Mathew, Tareq Kass-Hout, Shahid R Aziz, Charles J Prestigiacomo, Chirag D Gandhi
INTRODUCTION: Temporomandibular joint (TMJ) ankylosis causes disability through impaired digestion, mastication, speech and appearance. Surgical treatment increases range of motion with resultant functional improvement. However, substantial perioperative blood loss can occur, up to three liters, if the internal maxillary artery (IMAX) is injured as it traverses the ankylotic mass. Achieving hemostasis is difficult due to limited proximal IMAX access and poor visualization. Our aim is to investigate the technical feasibility and preliminary safety of preoperative IMAX embolization in patients undergoing TMJ ankylosis surgery...
January 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28151078/isolation-and-characterization-of-a-novel-marine-brucella-from-a-southern-sea-otter-enhydra-lutris-nereis-california-usa
#8
Melissa A Miller, Tristan L Burgess, Erin M Dodd, Jack C Rhyan, Spencer S Jang, Barbara A Byrne, Frances M Gulland, Michael J Murray, Sharon Toy-Choutka, Patricia A Conrad, Cara L Field, Inga F Sidor, Woutrina A Smith
We characterize Brucella infection in a wild southern sea otter ( Enhydra lutris nereis) with osteolytic lesions similar to those reported in other marine mammals and humans. This otter stranded twice along the central California coast over a 1-yr period and was handled extensively at two wildlife rehabilitation facilities, undergoing multiple surgeries and months of postsurgical care. Ultimately the otter was euthanized due to severe, progressive neurologic disease. Necropsy and postmortem radiographs revealed chronic, severe osteoarthritis spanning the proximal interphalangeal joint of the left hind fifth digit...
February 2, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28146605/stretch-for-the-treatment-and-prevention-of-contractures
#9
REVIEW
Lisa A Harvey, Owen M Katalinic, Robert D Herbert, Anne M Moseley, Natasha A Lannin, Karl Schurr
BACKGROUND: Contractures are a common complication of neurological and non-neurological conditions, and are characterised by a reduction in joint mobility. Stretch is widely used for the treatment and prevention of contractures. However, it is not clear whether stretch is effective. This review is an update of the original 2010 version of this review. OBJECTIVES: The aim of this review was to determine the effects of stretch on contractures in people with, or at risk of developing, contractures...
January 9, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28135303/microrna-and-mrna-transcriptome-profiling-in-primary-human-astrocytes-infected-with-borrelia-burgdorferi
#10
Timothy Casselli, Humaira Qureshi, Elizabeth Peterson, Danielle Perley, Emily Blake, Bradley Jokinen, Ata Abbas, Sergei Nechaev, John A Watt, Archana Dhasarathy, Catherine A Brissette
Lyme disease is caused by infection with the bacterium Borrelia burgdorferi (Bb), which is transmitted to humans by deer ticks. The infection manifests usually as a rash and minor systemic symptoms; however, the bacteria can spread to other tissues, causing joint pain, carditis, and neurological symptoms. Lyme neuroborreliosis presents itself in several ways, such as Bell's palsy, meningitis, and encephalitis. The molecular basis for neuroborreliosis is poorly understood. Analysis of the changes in the expression levels of messenger RNAs and non-coding RNAs, including microRNAs, following Bb infection could therefore provide vital information on the pathogenesis and clinical symptoms of neuroborreliosis...
2017: PloS One
https://www.readbyqxmd.com/read/28131346/improving-access-to-stroke-care-in-the-rural-setting-the-journey-to-acute-stroke-ready-designation
#11
Andrea Slivinski, Robin Jones, Hollis Whitehead, Vallire Hooper
: Stroke is the fifth highest cause of death and the leading cause of long-term disability in the United States. North Carolina has one of the highest death rates from stroke in the nation. Access to acute stroke care in rural western North Carolina is limited, with only one primary stroke center within an 18-county region. Angel Medical Center, located in rural western North Carolina, sought to pursue The Joint Commission's disease-specific certification as an Acute Stroke Ready Hospital in an effort to improve stroke care and outcomes across the region...
January 2017: Journal of Emergency Nursing: JEN: Official Publication of the Emergency Department Nurses Association
https://www.readbyqxmd.com/read/28128873/long-term-follow-up-of-norwegian-horses-affected-with-acquired-equine-polyneuropathy
#12
S Hanche-Olsen, C Kielland, C F Ihler, K Hultin Jäderlund
BACKGROUND: Acquired equine polyneuropathy, a neurologic disease clinically characterised by knuckling of metatarsophalangeal joints, has been described in numerous Nordic horses during the last 20 years. Although clinical recovery has been reported, large-scale data on long-term follow-up of survivors has been lacking. OBJECTIVES: To describe long-term survival of acquired equine polyneuropathy affected horses registered in Norway, with a focus on athletic performance and possible residual clinical signs connected to the disease...
January 27, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28124176/charcot-spinal-arthropathy-in-patients-with-congenital-insensitivity-to-pain-a-report-of-two-cases-and-review-of-the-literature
#13
REVIEW
Michael D Staudt, Christopher S Bailey, Fawaz Siddiqi
Charcot spine, or neuropathic spinal arthropathy, involves the progressive destruction of the spinal joint due to the lack of normal protective sensations and proprioception. A rare cause of Charcot spine is congenital insensitivity to pain, which is an absent or abnormal response to painful stimuli. There are few case reports describing this condition, and long-term follow-up data are limited. The presentation and treatment of two patients with Charcot spine secondary to congenital insensitivity to pain are described...
January 26, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28115853/the-role-and-structure-of-the-multidisciplinary-team-in-the-management-of-advanced-parkinson-s-disease-with-a-focus-on-the-use-of-levodopa-carbidopa-intestinal-gel
#14
REVIEW
Stephen W Pedersen, Martin Suedmeyer, Louis W C Liu, Dirk Domagk, Alison Forbes, Lars Bergmann, Koray Onuk, Ashley Yegin, Teus van Laar
A multidisciplinary team (MDT) approach is increasingly recommended in Parkinson's disease (PD) treatment guidelines, but no standard of care exists for such an approach, and the guidelines do not provide clarification on how it should be implemented. This paper reviews evidence of MDT interventions in people with PD and provides expert clinical perspectives for an MDT approach, with a focus on advanced PD and levodopa-carbidopa intestinal gel (carbidopa-levodopa enteral suspension in the USA). The key recommendations are to enable the best possible treatment of people with PD locally by facilitating a close structured collaboration of different health care professionals working in a fixed network structure; to refer people with PD to established MDT centers in a timely manner; to establish regular meetings for the MDT enabling interdisciplinary exchange and learning; to optimize individual treatment and carefully evaluate available treatment options; to ensure treatment decisions are agreed jointly between people with PD, their caregivers, family, and health care professional; and to include specialists outside of neurology from adjuvant medical departments as necessary when implementing advanced therapies...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28107236/surgical-technique-for-decompression-of-severe-thoracic-myelopathy-due-to-tuberous-ossification-of-ligamentum-flavum
#15
Ting Wang, Chuqiang Yin, Dechun Wang, Shuzhong Li, Xiaoliang Chen
STUDY DESIGN: Retrospective review. OBJECTIVE: To describe a safe surgical procedure, en bloc resection of the posterior wall of the thoracic canal, for the decompression of severe thoracic myelopathy caused by tuberous ossification of the ligamentum flavum (OLF). SUMMARY OF BACKGROUND DATA: OLF has been widely recognized as a cause of thoracic myelopathy in East Asia. Surgical decompression of thoracic myelopathy caused by OLF is technically demanding...
February 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28099563/brazilian-guidelines-for-endovascular-treatment-of-patients-with-acute-ischemic-stroke
#16
Octávio Marques Pontes-Neto, Pedro Cougo, Sheila Cristina Ouriques Martins, Daniel G Abud, Raul G Nogueira, Maramélia Miranda, Luiz Henrique de Castro-Afonso, Leticia C Rebello, José Guilherme M Pereira Caldas, Rodrigo Bazan, Daniel C Bezerra, Marco Tulio Rezende, Gabriel R de Freitas, Alexandre Longo, Pedro Magalhães, João José Freitas de Carvalho, Francisco José Montalverne, Fabricio Oliveira Lima, Gustavo H V Andrade, Ayrton R Massaro, Jamary Oliveira-Filho, Rubens Gagliardi, Gisele Sampaio Silva
These guidelines are the result of a joint effort from writing groups of the Brazilian Stroke Society, the Scientific Department of Cerebrovascular Diseases of the Brazilian Academy of Neurology, the Brazilian Stroke Network and the Brazilian Society of Diagnostic and Therapeutic Neuroradiology. Members from these groups participated in web-based discussion forums with predefined themes, followed by videoconference meetings in which controversies and position statements were discussed, leading to a consensus...
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28099107/case-238-spontaneous-pneumothorax-secondary-to-intrapulmonary-necrobiotic-rheumatoid-nodule
#17
Ammar A Chaudhry, Maryam Gul, Abbas A Chaudhry, William Moore
History A 54-year-old white woman with a history of rheumatoid arthritis who was taking glucocorticoids and methotrexate presented to the emergency department in December with worsening shortness of breath and chest heaviness for 1 week. She reported additional symptoms of weakness, headache, and arthralgia primarily involving her bilateral hands, wrist, ankles, and feet. She denied experiencing fevers, syncope or presyncope, focal neurologic deficits, chest pain, nausea, vomiting, unintentional weight loss, or recent trauma...
February 2017: Radiology
https://www.readbyqxmd.com/read/28092567/inter-joint-coordination-deficits-revealed-in-the-decomposition-of-endpoint-jerk-during-goal-directed-arm-movement-after-stroke
#18
Jozsef Laczko, Robert Arthur Scheidt, Lucia S Simo, Davide Piovesan
It is well-documented that neurological deficits after stroke can disrupt motor control processes that affect the smoothness of reaching movements. The smoothness of hand trajectories during multi-joint reaching depends on shoulder and elbow joint angular velocities and their successive derivatives as well as on the instantaneous arm configuration and its rate of change. Right-handed survivors of unilateral hemiparetic stroke and neurologically-intact control participants held the handle of a two-joint robot and made horizontal planar reaching movements...
January 16, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28092566/wake-up-exoskeleton-to-assist-children-with-cerebral-palsy-design-and-preliminary-evaluation-in-level-walking
#19
Fabrizio Patane, Stefano Rossi, Fausto Del Sette, Juri Taborri, Paolo Cappa
This paper presents the modular design and control of a novel compliant lower limb multi-joint exoskeleton for the rehabilitation of ankle knee mobility and locomotion of pediatric patients with neurological diseases, such as Cerebral Palsy (CP). The device consists of an untethered powered knee-ankle-foot orthosis (KAFO), addressed as WAKE-up (Wearable Ankle Knee Exoskeleton), characterized by a position control and capable of operating synchronously and synergistically with the human musculoskeletal system...
January 11, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#20
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
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