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https://www.readbyqxmd.com/read/29034544/cyp2u1-activity-is-altered-by-missense-mutations-in-hereditary-spastic-paraplegia-56
#1
Christelle M Durand, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Stéphanie Jacqueré, Laure Raymond, Isabelle Coupry, Giovanni Benard, Frédéric Darios, Khalid H El-Hachimi, Guja Astrea, François Rivier, Guillaume Banneau, Claire Pujol, Didier Lacombe, Alexandra Durr, Patrick J Babin, Filippo M Santorelli, Nicolas Pietrancosta, Jean-Luc Boucher, Daniel Mansuy, Giovanni Stevanin, Cyril Goizet
Hereditary Spastic Paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. SPG56 is a rare autosomal recessive early onset complicated form of HSP caused by mutations in CYP2U1. The CYP2U1 enzyme was shown to catalyze the hydroxylation of arachidonic acid. Here, we report two further SPG56 families carrying 3 novel CYP2U1 missense variants and the development of an in vitro biochemical assay to determine the pathogenicity of missense variants of uncertain clinical significance...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29034041/successful-endovascular-repair-of-mycotic-aortic-pseudoaneurysm-followed-by-aortoesophageal-fistula
#2
Seiichi Yamaguchi, Hideki Ueda, Hisanori Fujita, Shigeyasu Takeuchi
Mycotic aneurysm of the aorta is a rare, but life-threatening pathology. In recent years, endovascular stent graft placement has been introduced as an effective alternative for treating infected aortic aneurysms. A 64-year-old woman with a history of paraplegia due to spinal cord injury was referred to our institute with fever and blood-tinged sputum. Computed tomography (CT) scan showed an 11-cm pseudoaneurysm arising from the proximal descending aorta, which was normal 1 month ago at the previous CT scan...
June 25, 2017: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29026670/rare-case-of-conus-medullaris-glioblastoma-multiforme-in-a-teenager
#3
Lakhdar Fayçal, Bougrine Mouna, El Abbadi Najia
BACKGROUND: Primary intramedullary spinal glioblastoma multiforme (GBM) lesions are very rare comprising only 1.5% of all spinal cord tumors. These lesions typically result in rapid neurological deterioration and are associated with a very poor prognosis. CASE DESCRIPTION: A 16-year-old male exhibited a slowly progressive paraparesis with urinary incontinence, ultimately resulting in paraplegia. On magnetic resonance (MR), he was diagnosed with an intramedullary GBM of the spinal cord extending from the T9 level through the conus medullaris...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29026558/expanded-phenotype-in-a-patient-with-spastic-paraplegia-7
#4
Jennifer Gass, Patrick R Blackburn, Jessica Jackson, Sarah Macklin, Jay van Gerpen, Paldeep S Atwal
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29023604/correction-targeted-high-throughput-sequencing-in-hereditary-ataxia-and-spastic-paraplegia
#5
Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft
[This corrects the article DOI: 10.1371/journal.pone.0174667.].
2017: PloS One
https://www.readbyqxmd.com/read/29017016/participation-in-moderate-to-vigorous-leisure-time-physical-activity-is-related-to-decreased-visceral-adipose-tissue-in-adults-with-spinal-cord-injury
#6
Chelsea A Pelletier, Maryam Omidvar, Masae Miyatani, Lora Giangregorio, B Catharine Craven
Increased visceral adiposity place individuals with chronic spinal cord injury (SCI) at increased risk of cardiometabolic disease. The purpose of this study was to identify if people with chronic SCI who participate in any moderate-to-vigorous intensity leisure time physical activity (LTPA) have lower visceral adipose tissue (VAT) area compared to those who report none. Participants included 136 adult men (n = 100) and women (n = 36) with chronic [mean (±SD) 15.6±11.3 years post injury] tetraplegia (n = 66) or paraplegia (n = 70) recruited from a tertiary rehabilitation hospital...
October 10, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28991695/monozygotic-twins-with-a-new-compound-heterozygous-spg11-mutation-and-different-disease-expression
#7
Christiane Schneider-Gold, Gabriele Dekomien, Martin Regensburger, Ruth Schneider, Nadine Trampe, Christos Krogias, Carsten Lukas, Barbara Bellenberg
BACKGROUND: A pair of monozygotic 22-year-old twins with complicated hereditary spastic paraplegia caused by a novel SPG11 mutation is described. METHODS: Genetic testing and thorough clinical examination, magnetic resonance imaging (MRI) and MR-spectroscopy were performed. RESULTS: The twins were compound heterozygous for a known frameshift as well as a novel splice site mutation in the SPG11 gene. Clinically the patients showed a similar spectrum of symptoms but different disease presentation...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28990874/intensive-gait-treatment-using-a-robot-suit-hybrid-assistive-limb-in-acute-spinal-cord-infarction-report-of-two-cases
#8
Hiroki Watanabe, Aiki Marushima, Hiroaki Kawamoto, Hideki Kadone, Tomoyuki Ueno, Yukiyo Shimizu, Ayumu Endo, Yasushi Hada, Kousaku Saotome, Tetsuya Abe, Masashi Yamazaki, Yoshiyuki Sankai, Eiichi Ishikawa, Akira Matsumura
CONTEXT: Spinal cord infarction (SCI) causes gait disturbance because of paresis, spasticity, and sensory disturbance of the lower limbs. There is no effective medical treatment for SCI, and conventional rehabilitation alone is the main approach to helping individuals work toward independent walking. The aim of this study was to evaluate the effect of gait treatment using the Hybrid Assistive Limb (HAL) on acute SCI. FINDINGS: A 61-year-old female and a 62-year-old male with incomplete paraplegia participated in this study...
October 9, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28987179/genetics-of-neurodegenerative-diseases-an-overview
#9
Lasse Pihlstrøm, Sarah Wiethoff, Henry Houlden
Genetic factors are central to the etiology of neurodegeneration, both as monogenic causes of heritable disease and as modifiers of susceptibility to complex, sporadic disorders. Over the last two decades, the identification of disease genes and risk loci has led to some of the greatest advances in medicine and invaluable insights into pathogenic mechanisms and disease pathways. Large-scale research efforts, novel study designs, and advances in methodology are rapidly expanding our understanding of the genome and the genetic architecture of neurodegenerative disease...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28986411/virtual-reality-improves-embodiment-and-neuropathic-pain-caused-by-spinal-cord-injury
#10
Polona Pozeg, Estelle Palluel, Roberta Ronchi, Marco Solcà, Abdul-Wahab Al-Khodairy, Xavier Jordan, Ammar Kassouha, Olaf Blanke
OBJECTIVE: To investigate changes in body ownership and chronic neuropathic pain in patients with spinal cord injury (SCI) using multisensory own body illusions and virtual reality (VR). METHODS: Twenty patients with SCI with paraplegia and 20 healthy control participants (HC) participated in 2 factorial, randomized, repeated-measures design studies. In the virtual leg illusion (VLI), we applied asynchronous or synchronous visuotactile stimulation to the participant's back (either immediately above the lesion level or at the shoulder) and to the virtual legs as seen on a VR head-mounted display...
October 6, 2017: Neurology
https://www.readbyqxmd.com/read/28981953/-hereditary-spastic-paraplegia-a-pedigree-with-five-cases
#11
Pingping Ning, Ran An, Yanming Xu
No abstract text is available yet for this article.
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28979699/autophagy-plays-a-protective-role-in-motor-neuron-degeneration-following-spinal-cord-ischemia-reperfusion-induced-spastic-paralysis
#12
Li Wang, Dongliang Feng, Yuan Liu, Sen Li, Long Jiang, Zaiyun Long, Yamin Wu
Spinal cord ischemia and reperfusion (SCIR) injury can lead to neurologic dysfunction and paraplegia, which are serious complications after shock or thoracoabdominal aortic surgery. Autophagy is a fundamental cellular process in eukaryotes, and homeostasis of autophagic activities in the cytoplasm is critical for the maintenance of neuronal function. To date, no studies have addressed the involvement of autophagy in the regulation of motor neurons in the ventral horn of the spinal cord area following SCIR-induced spastic paralysis or the underlying mechanisms of this process...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28970574/autosomal-dominant-transmission-of-complicated-hereditary-spastic-paraplegia-due-to-a-dominant-negative-mutation-of-kif1a-spg30-gene
#13
Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee
KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. In addition, KIF1A mutations have been found in pure HSP with autosomal dominant inheritance. Here we report the first case of familial complicated HSP with a KIF1A mutation transmitted in autosomal dominant inheritance...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28967438/identification-of-specific-gait-patterns-in-patients-with-cerebellar-ataxia-spastic-paraplegia-and-parkinson-s-disease-a-non-hierarchical-cluster-analysis
#14
Mariano Serrao, Giorgia Chini, Matteo Bergantino, Diego Sarnari, Carlo Casali, Carmela Conte, Alberto Ranavolo, Christian Marcotulli, Martina Rinaldi, Gianluca Coppola, Fabiano Bini, Francesco Pierelli, Franco Marinozzi
Patients with degenerative neurological diseases such as cerebellar ataxia, spastic paraplegia, and Parkinson's disease often display progressive gait function decline that inexorably impacts their autonomy and quality of life. Therefore, considering the related social and economic costs, one of the most important areas of intervention in neurorehabilitation should be the treatment of gait abnormalities. This study aims to determine whether an entire dataset of gait parameters recorded in patients with degenerative neurological diseases can be clustered into homogeneous groups distinct from each other and from healthy subjects...
September 26, 2017: Human Movement Science
https://www.readbyqxmd.com/read/28963161/tuberculosis-of-the-spine-with-severe-angular-kyphosis-mean-34-year-post-operative-follow-up-shows-that-prevention-is-better-than-salvage
#15
Y W Wong, D Samartzis, K M C Cheung, K Luk
AIMS: To address the natural history of severe post-tuberculous (TB) kyphosis, with focus upon the long-term neurological outcome, occurrence of restrictive lung disease, and the effect on life expectancy. PATIENTS AND METHODS: This is a retrospective clinical review of prospectively collected imaging data based at a single institute. A total of 24 patients of Southern Chinese origin who presented with spinal TB with a mean of 113° of kyphosis (65° to 159°) who fulfilled inclusion criteria were reviewed...
October 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28957403/gene-selection-tool-gst-a-r-based-tool-for-genetic-disorders-based-on-the-sliding-window-proportion-test-using-whole-exome-sequencing-data
#16
Sugi Lee, Minah Jung, Jaeeun Jung, Kunhyang Park, Jea-Woon Ryu, Jeongkil Kim, Dae-Soo Kim
Whole-exome sequencing (WES) can identify causative mutations in hereditary diseases. However, WES data might have a large candidate variant list, including false positives. Moreover, in families, it is more difficult to select disease-associated variants because many variants are shared among members. To reduce false positives and extract accurate candidates, we used a multilocus variant instead of a single-locus variant (SNV). We set up a specific window to analyze the multilocus variant and devised a sliding-window approach to observe all variants...
2017: PloS One
https://www.readbyqxmd.com/read/28955171/postural-control-assessment-in-physically-active-and-sedentary-individuals-with-paraplegia
#17
Paola Errera Magnani, Alberto Cliquet, Daniela Cristina Carvalho de Abreu
OBJECTIVE: The aim of this study was to evaluate functional independence and trunk control during maximum-range tasks in individuals with spinal cord injuries, who were divided into sedentary (SSI, n=10) and physically active (PASI, n=10) groups . METHODS: Anamnesis was conducted and level and type of injury were identified (according to the American Spinal Injury Association protocol, ASIA) and the Functional Independence Measure (FIM) questionnaire was applied...
July 2017: Acta Ortopedica Brasileira
https://www.readbyqxmd.com/read/28951274/spinal-metastasis-of-unknown-primary-accompanied-by-neurological-deficit-or-vertebral-instability
#18
Abdurrahman Aycan, Sebahattin Çelik, Fetullah Kuyumcu, Mehmet Edip Akyol, Mehmet Arslan, Erkan Doğan, Harun Arslan
INTRODUCTION AND AIM: Spinal bone metastases are highly common. They are mostly localized to the lumbar, thoracic, and cervical spine, respectively. The most common primaries to result in spinal metastases include lung, breast, and prostate carcinomas in adults as opposed to leukemia, Ewing's sarcoma, rhabdomyosarcoma, and neuroblastoma in children. In patients diagnosed with a cancer, bone metastases are found in 40% and spinal metastases in 10% of the patients. In this study, we aimed to present 25 patients diagnosed with a spinal metastasis of unknown primary who presented with a low back pain or acute-onset neurological deficits and underwent operative treatment...
September 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28950900/energy-balance-components-in-persons-with-paraplegia-daily-variation-and-appropriate-measurement-duration
#19
Tom E Nightingale, Sean Williams, Dylan Thompson, James L J Bilzon
BACKGROUND: Despite obesity being highly prevalent in persons with spinal cord injury (SCI), our current understanding of the interactions between energy balance components, which may contribute to this, is limited. The primary aim of this study is to identify the intra-individual variability of physical activity dimensions across days and suggest an appropriate monitoring time frame for these constructs in adults with SCI. The secondary aim is to examine these parameters with regard to energy intake and dietary macronutrient composition...
September 26, 2017: International Journal of Behavioral Nutrition and Physical Activity
https://www.readbyqxmd.com/read/28947226/outcomes-of-thoracic-endovascular-aortic-repair-in-adult-coarctation-patients
#20
Salim Lala, Salvatore T Scali, Robert J Feezor, Satish Chandrekashar, Kristina A Giles, Javairiah Fatima, Scott A Berceli, Martin R Back, Thomas S Huber, Thomas M Beaver, Adam W Beck
BACKGROUND: Aortic coarctation (AC) is most commonly identified in pediatric patients; however, adults can present with late sequelae of untreated coarctation or complications of prior open repair. To date, there are limited data about the role of thoracic endovascular aortic repair (TEVAR) in this group of patients. The purpose of this analysis was to describe our experience with management of adult coarctation patients using TEVAR. METHODS: All TEVAR patients treated for primary coarctation or late sequelae of previous open repair (eg, pseudoaneurysm, recurrent coarctation or anastomotic stenosis related to index open coarctation repair) were reviewed...
September 22, 2017: Journal of Vascular Surgery
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