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https://www.readbyqxmd.com/read/29238094/energy-expenditure-after-spinal-cord-injury-in-people-with-motor-complete-tetraplegia-or-motor-complete-paraplegia
#1
Tobias Holmlund, Elin Ekblom-Bak, Erika Franzén, Claes Hultling, Kerstin Wahman
STUDY DESIGN: Cross-sectional. OBJECTIVES: This study aimed to describe and compare VO2 and energy expenditure at rest (REE) and during standardized sedentary, non-exercise physical activity, and exercise activities, in people with motor-complete tetraplegia (C5-C8). Further, REE and energy expenditure (EE) for the different activities were compared to data from a reference group of people with motor-complete paraplegia (T7-T12). SETTING: Sweden...
December 14, 2017: Spinal Cord
https://www.readbyqxmd.com/read/29236946/reply-polr3a-variants-in-hereditary-spastic-paraplegia-and-ataxia
#2
Martina Minnerop, Delia Kurzwelly, Tim W Rattay, Dagmar Timmann, Holger Hengel, Matthis Synofzik, Claudia Stendel, Rita Horvath, Rebecca Schüle, Alfredo Ramirez
No abstract text is available yet for this article.
December 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29236826/hereditary-spastic-paraplegia-from-1880-to-2017-an-historical-review
#3
Ingrid Faber, Eduardo Rafael Pereira, Alberto R M Martinez, Marcondes França, Hélio Afonso Ghizoni Teive
The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29236600/benefit-of-intraoperative-neurophysiological-monitoring-in-a-pediatric-patient-with-spinal-dysmorphism-split-cord-malformation-and-scoliosis
#4
Faisal R Jahangiri, Samir Al Sayegh, Moutasem Azzubi, Abdulrahman M Alrajhi, Monerah M Annaim, Shmoukh A Al Sharif, Tanweer Aziz, Sami Al Eissa
Intraoperative neurophysiological monitoring (IONM) consists of a group of neurodiagnostic techniques that assess the nervous system's functional integrity during surgical operations. A retrospective analysis of a pediatric female patient was conducted who underwent 12 operations for the correction of scoliosis, tethered cord, and split spinal cord wherein IONM played an important role. From age 3 to 6, she underwent six procedures including a release of the tethered cord, resection of the filum terminale, removal of a T11-T12 bony spur, release of L3 adhesions, repair of subcutaneous meningocele, and correction of scoliosis with a vertical expandable prosthetic titanium rod (VEPTR) technique without the use of IONM...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/29235388/early-outcomes-of-the-t-branch-off-the-shelf-multibranched-stent-graft-in-urgent-thoracoabdominal-aortic-aneurysm-repair
#5
Konstantinos Spanos, Tilo Kölbel, Myrto Theodorakopoulou, Franziska Heidemann, Fiona Rohlffs, Eike Sebastian Debus, Nikolaos Tsilimparis
PURPOSE: To assess the short-term outcomes of the multibranched off-the-shelf t-Branch stent-graft for urgent thoracoabdominal aortic aneurysm (TAAA) repair and to evaluate the impact on outcomes of the learning curve and adherence to the instruction for use (IFU). METHODS: Between 2014 and 2017, 42 patients (mean age 73.3±7 years; 26 men) underwent urgent TAAA treatment using the t-Branch stent-graft [18 in the early (2014-2015) period and 24 in the late (2016-2017) period]...
December 1, 2017: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/29235151/one-stage-ascending-to-abdominal-aortic-bypass-with-concomitant-aortic-valve-procedures-for-aortic-coarctation-combined-with-aortic-valve-pathology-in-adult-patients
#6
Ren Changwei, Lizhong Sun, Shangdong Xu, Yongqiang Lai
OBJECTIVE: This study aims to evaluate the results of one-stage ascending-to-abdominal aortic bypass and aortic valve replacement for concomitant aortic coarctation combined with aortic valve pathology. METHODS: From June 2009 to March 2017, 28 consecutive adult patients (23 males and five females) with aortic coarctation combined with aortic valve pathology underwent one-stage ascending-to-abdominal aorta bypass and aortic valve replacement or a Bentall procedure...
December 12, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29234670/mitochondrial-energy-metabolism-is-required-for-lifespan-extension-by-the-spastic-paraplegia-associated-protein-spartin
#7
Julia Ring, Patrick Rockenfeller, Claudia Abraham, Jelena Tadic, Michael Poglitsch, Katherina Schimmel, Julia Westermayer, Simon Schauer, Bettina Achleitner, Christa Schimpel, Barbara Moitzi, Gerald N Rechberger, Stephan J Sigrist, Didac Carmona-Gutierrez, Guido Kroemer, Sabrina Büttner, Tobias Eisenberg, Frank Madeo
Hereditary spastic paraplegias, a group of neurodegenerative disorders, can be caused by loss-of-function mutations in the protein spartin. However, the physiological role of spartin remains largely elusive. Here we show that heterologous expression of human or Drosophila spartin extends chronological lifespan of yeast, reducing age-associated ROS production, apoptosis, and necrosis. We demonstrate that spartin localizes to the proximity of mitochondria and physically interacts with proteins related to mitochondrial and respiratory metabolism...
November 30, 2017: Microbial Cell
https://www.readbyqxmd.com/read/29234271/the-enigmatic-role-of-gba2-in-controlling-locomotor-function
#8
REVIEW
Marina A Woeste, Dagmar Wachten
The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP) and autosomal-recessive cerebellar ataxia (ARCA). Patients suffering from these disorders exhibit impaired locomotion and neurological abnormalities. GBA2 mutations found in these patients have been proposed to impair GBA2 function. However, the molecular mechanism underlying the occurrence of mutations in the GBA2 gene and the development of locomotor dysfunction is not well-understood...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29230638/application-of-the-sodium-hyaluronate-cntf-scaffolds-in-repairing-adult-rat-spinal-cord-injury-and-facilitating-neural-network-formation
#9
Yabin Xie, Wei Song, Wen Zhao, Yudan Gao, Junkui Shang, Peng Hao, Zhaoyang Yang, Hongmei Duan, Xiaoguang Li
The present study aimed to explore the potential of the sodium hyaluronate-CNTF (ciliary neurotrophic factor) scaffold in activating endogenous neurogenesis and facilitating neural network re-formation after the adult rat spinal cord injury (SCI). After completely cutting and removing a 5-mm adult rat T8 segment, a sodium hyaluronate-CNTF scaffold was implanted into the lesion area. Dil tracing and immunofluorescence staining were used to observe the proliferation, differentiation and integration of neural stem cells (NSCs) after SCI...
December 6, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/29229954/recent-evolution-in-use-and-effectiveness-in-mainland-china-of-thoracic-endovascular-aortic-repair-of-type-b-aortic-dissection
#10
Jiang Xiong, Chen Chen, Zhongyin Wu, Duanduan Chen, Wei Guo
A meta-analysis was performed on 175 studies selected among those published in mainland China between 2008 and 2015 on thoracic endovascular aortic repair (TEVAR) for type B aortic dissection (AD). Most TEVAR were performed in Shanghai, Beijing, Hubei and Guangdong in patients with mean age of 53.9 years, and acute (70%) or chronic (30%) type B AD. Procedural success rate was 99.1 ± 0.8%. Major complication rate was 1.7 ± 2.3%, with paraplegia in 0.4 ± 0.0%. Overall in-hospital mortality rate was 1...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29228183/plasma-oxysterols-biomarkers-for-diagnosis-and-treatment-in-spastic-paraplegia-type-5
#11
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie-Lorraine Monin, Elodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J Babin, Claire Guissart, Imen Benyounes, Urielle Ullmann, Gaetan Lesca, Christel Thauvin-Robinet, Pierre Labauge, Sylvie Odent, Claire Ewenczyk, Claude Wolf, Giovanni Stevanin, David Hajage, Alexandra Durr, Cyril Goizet, Fanny Mochel
The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. We developed a method based on ultra-performance liquid chromatography electrospray tandem mass spectrometry to validate two plasma 25-hydroxycholesterol (25-OHC) and 27-hydroxycholesterol (27-OHC) as diagnostic biomarkers in a cohort of 21 patients with SPG5...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29228109/polr3a-variants-in-hereditary-spastic-paraplegia-and-ataxia
#12
Laurence Gauquelin, Martine Tétreault, Isabelle Thiffault, Emily Farrow, Neil Miller, Byunggil Yoo, Eric Bareke, Grace Yoon, Oksana Suchowersky, Nicolas Dupré, Mark Tarnopolsky, Bernard Brais, Nicole I Wolf, Jacek Majewski, Guy A Rouleau, Ziv Gan-Or, Geneviève Bernard
No abstract text is available yet for this article.
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29227787/major-destructive-asymptomatic-lumbar-charcot-lesion-treated-with-three-column-resection-and-short-segment-reconstruction-case-report-treatment-strategy-and-review-of-literature
#13
Kestutis Valancius, Gaurav Garg, Madalina Duicu, Ebbe Stender Hansen, Cody Bunger
Charcot's spine is a long-term complication of spinal cord injury. The lesion is often localized at the caudal end of long fusion constructs and distal to the level of paraplegia. However, cases are rare and the literature relevant to the management of Charcot's arthropathy is limited. This paper reviews the clinical features, diagnosis, and surgical management of post-traumatic spinal neuroarthropathy in the current literature. We present a rare case of adjacent level Charcot's lesion of the lumbar spine in a paraplegic patient, primarily treated for traumatic spinal cord lesion 39 years before current surgery...
2017: SICOT-J
https://www.readbyqxmd.com/read/29226631/novel-compound-heterozygous-mutations-in-gpt2-linked-to-microcephaly-and-intellectual-developmental-disability-with-or-without-spastic-paraplegia
#14
Hande Kaymakcalan, Yanki Yarman, Nukte Goc, Fatih Toy, Cihan Meral, A Gulhan Ercan-Sencicek, Murat Gunel
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD). In addition to these clinical phenotypes, the male sibling has spastic paraplegia, and the female sibling has epilepsy. Their four extended family members have IDD and microcephaly. Both of these variants, c...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29225897/-bottom-hung-window-trauma-in-cats-neurological-evaluation-and-outcome-in-71-cats-with-bilateral-hindlimb-injury
#15
Gabriele M Gradner, Lina Dogman-Rauberger, Gilles Dupré
Objectives: Influence of neurological status on the mortality rate of paraparetic/paralysed cats presenting after entrapment in a bottom-hung window was evaluated. It was hypothesised that (1) loss of deep pain sensation at admission would not be a negative prognostic factor for regaining motor function and that (2) mortality rate would be influenced by the severity of neurological grade upon admission. Methods: Clinical and pathological data of affected cats that presented at our institution between 2001 and 2012 for this specific trauma were collected retrospectively: breed, age, sex, last contact with owner (<3 hours and >3 hours), whether the cat was suffering from monoparesis or paraparesis/paraplegia, duration of hospitalisation, rectal temperature, surface temperature of the skin of the hindlimbs, femoral pulse and tone of the pelvic musculature...
2017: Veterinary Record Open
https://www.readbyqxmd.com/read/29224959/metabolomics-approaches-in-experimental-allergic-encephalomyelitis
#16
S Battini, C Bund, F M Moussallieh, A E Çiçek, J De Sèze, I J Namer
A myelin basic protein (MBP)-induced experimental allergic encephalomyelitis (EAE) involves paraplegia due to a reversible thoracolumbar spinal cord impairment. The aims of this study were thus to find significant metabolic biomarkers of inflammation and identify the site of inflammation in the central nervous system (CNS) during the acute signs in of the disease using metabolomics. All the EAE samples were associated with higher levels of lactate, ascorbate, glucose and amino acids, and decreased level of N-acetyl-aspartate (NAA) compared to the control group...
December 2, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29217482/keep-alert-eyes-on-delayed-paraplegia
#17
EDITORIAL
Kenji Minatoya
No abstract text is available yet for this article.
December 4, 2017: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29214587/rare-neurodegenerative-diseases-clinical-and-genetic-update
#18
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29209898/clinical-application-of-next-generation-sequencing-in-hereditary-spinocerebellar-ataxia-increasing-the-diagnostic-yield-and-broadening-the-ataxia-spasticity-spectrum-a-retrospective-analysis
#19
REVIEW
Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M Santorelli
One of the hardest challenges in medical genetics is to reach a molecular diagnosis in the presence of rare brain disorders. Hereditary spinocerebellar ataxia (HA), characterized by high clinical and genetic heterogeneity, is among the diseases that present this challenge. HA can have features overlapping with those of other neurological diseases, especially hereditary spastic paraplegia (HSP), as routine clinical application of next generation sequencing (NGS) has confirmed. This article reviews different NGS methods applied in heterogeneous cohorts of patients with suspected HA and suggests that exome sequencing should be considered the first-tier genetic approach in this setting...
December 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29209163/voluntary-ambulation-by-upper-limb-triggered-hal%C3%A2-in-patients-with-complete-quadri-paraplegia-due-to-chronic-spinal-cord-injury
#20
Yukiyo Shimizu, Hideki Kadone, Shigeki Kubota, Kenji Suzuki, Tetsuya Abe, Tomoyuki Ueno, Yuichiro Soma, Yoshiyuki Sankai, Yasushi Hada, Masashi Yamazaki
Patients with complete paraplegia after spinal cord injury (SCI) are unable to stand or walk on their own. Standing exercise decreases the risk of decubitus ulcers, osteoporosis, and joint deformities in patients with SCI. Conventional gait training for complete paraplegia requires excessive upper limb usage for weight bearing and is difficult in cases of complete quadriplegia. The purpose of this study was to describe voluntary ambulation triggered by upper limb activity using the Hybrid Assistive Limb® (HAL) in patients with complete quadri/paraplegia after chronic SCI...
2017: Frontiers in Neuroscience
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