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https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#1
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28632557/vertebral-end-plate-perforation-for-intervertebral-disc-height-preservation-after-single-level-lumbar-discectomy-a-randomized-controlled-trial
#2
Miha Vodičar, Robert Košak, Matevž Gorenšek, Robert Korez, Tomaž Vrtovec, Jadran Koder, Vane Antolič, Rok Vengust
STUDY DESIGN: Pilot single-centre, stratified, prospective, randomized, double-blinded, parallel-group, controlled study. OBJECTIVE: To determine whether vertebral end-plate perforation after lumbar discectomy causes annulus reparation and intervertebral disc volume restoration. To determine that after 6 months there would be no clinical differences between the control and study group. SUMMARY OF BACKGROUND DATA: Low back pain is the most common long-term complication after lumbar discectomy...
July 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28632553/lumbar-retrolisthesis-in-aging-spine-what-are-the-associated-factors
#3
Feng Zhu, Hongda Bao, Zhen Liu, Zezhang Zhu, Shouyu He, Yong Qiu
STUDY DESIGN: A retrospective radiographic study. OBJECTIVE: The aim of this study is to demonstrate that lumbar retrolisthesis serves as an important compensatory mechanism and to identify the possible factor related to lumbar retrolisthesis. SUMMARY OF BACKGROUND DATA: Lumbar instability is one of the common degenerative changes, which presents as 2 radiologic features: anterolisthesis and retrolisthesis. Compared with the extensive studies on anterolisthesis, limit data are available on the characteristics and clinical relevance of lumbar retrolisthesis...
July 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28631843/age-related-spontaneous-lumbar-intervertebral-disc-degeneration-in-a-mouse-model
#4
Takashi Ohnishi, Hideki Sudo, Takeru Tsujimoto, Norimasa Iwasaki
The pathogenesis of intervertebral disc degeneration is unclear, but it is a major cause of several spinal diseases. Animal models have historically provided an appropriate benchmark for understanding the human spine. However, there is little information about when intervertebral disc degeneration begins in the mouse or regarding the relationship between magnetic resonance imaging and histological findings. The aim for this study was to obtain information about age-related spontaneous intervertebral disc degeneration in the mouse lumbar spine using magnetic resonance imaging and a histological score regarding when the intervertebral disc degeneration started and how rapidly it progressed, as well as how our histological score detected the degeneration...
June 20, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28622300/the-als-linked-e102q-mutation-in-sigma-receptor-1-leads-to-er-stress-mediated-defects-in-protein-homeostasis-and-dysregulation-of-rna-binding-proteins
#5
Alice Dreser, Jan Tilmann Vollrath, Antonio Sechi, Sonja Johann, Andreas Roos, Alfred Yamoah, Istvan Katona, Saeed Bohlega, Dominik Wiemuth, Yuemin Tian, Axel Schmidt, Jörg Vervoorts, Marc Dohmen, Cordian Beyer, Jasper Anink, Eleonora Aronica, Dirk Troost, Joachim Weis, Anand Goswami
Amyotrophic lateral sclerosis (ALS) is characterized by the selective degeneration of motor neurons (MNs) and their target muscles. Misfolded proteins which often form intracellular aggregates are a pathological hallmark of ALS. Disruption of the functional interplay between protein degradation (ubiquitin proteasome system and autophagy) and RNA-binding protein homeostasis has recently been suggested as an integrated model that merges several ALS-associated proteins into a common pathophysiological pathway...
June 16, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28609385/association-between-menopause-and-lumbar-disc-degeneration-an-mri-study-of-1-566-women-and-1-382-men
#6
Chao Lou, Hongliang Chen, Liangwei Mei, Weiyang Yu, Kejun Zhu, Feijun Liu, Zhenzhong Chen, Guangheng Xiang, Minjiang Chen, Qiaoyou Weng, Dengwei He
OBJECTIVE: The aim of this study was to revisit and further investigate the association between menopause and disc degeneration in the lumbar spine using a magnetic resonance imaging-based eight-level grading system. METHODS: This study cohort comprised of 1,566 women and 1,382 age-matched men who were admitted for low back pain from June 2013 to October 2016. Data on age, weight, height, body mass index, age at natural menopause, and years since menopause (YSM) were obtained...
June 12, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28606605/cervical-and-thoracic-intervertebral-disc-hydration-increases-with-recumbency-a-study-in-101-healthy-volunteers
#7
Daniel L Belavy, Matthew Quittner, Yuan Ling, David Connell, Timo Rantalainen
BACKGROUND CONTEXT: Variation in water content and size of the lumbar intervertebral discs (IVDs) is known to occur due to recumbency and has been associated with lumbar IVD herniation risk through the impact of IVD hydration on tissue mechanical properties. It is not clear if similar changes in the cervical or thoracic IVDs occur with recumbency. PURPOSE: Determine whether increases in hydration of thoracic and cervical IVDs occur with short-duration recumbency...
June 9, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28606581/the-effect-of-single-level-disc-degeneration-on-dynamic-response-of-the-whole-lumbar-spine-to-vertical-vibration
#8
Li-Xin Guo, Wei Fan
OBJECTIVE: The objective of this study was to investigate the effect of single-level disc degeneration on dynamic response of the whole lumbar spine to vertical whole body vibration that is typically present when driving vehicles. METHODS: Ligamentous finite element models of the lumbar L1-S1 motion segment in different grades of degeneration (healthy, mild and moderate) at L4-L5 level were developed with consideration of changing disc height and material properties of the nucleus pulpous...
June 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28604492/a-microstructural-investigation-of-disc-disruption-induced-by-low-frequency-cyclic-loading
#9
Meredith L Schollum, Kelly R Wade, Peter A Robertson, Ashvin Thambyah, Neil D Broom
STUDY DESIGN: Microstructural investigation of low frequency cyclic loading and flexing of the lumbar disc. OBJECTIVE: To explore micro-level structural damage in motion segments subjected to low frequency repetitive loading and flexing at sub-acute loads. SUMMARY OF BACKGROUND DATA: Cumulative exposure to mechanical load has been implicated in low back pain and injury. The mechanical pathways by which cyclic loading physically affects spine tissues remain unclear, in part due to the absence of high quality microstructural evidence...
June 9, 2017: Spine
https://www.readbyqxmd.com/read/28603572/fibroblast-transplantation-results-to-the-degenerated-rabbit-lumbar-intervertebral-discs
#10
Ibrahim Halil Ural, Kerem Alptekin, Aysegul Ketenci, Seyhun Solakoglu, Hasan Alpak, Süleyman Özyalçın
BACKGROUND: Our study is an analysis of the histological and radiological changes in degenerated lumbar intervertebral discs, after transplantation of fibroblasts in rabbits. With that study we aimed to show the viability of the fibroblasts injected to the degenerated discs, and observe their potential for further studies. METHOD: The apoptosis of the cell is one of the factors at the disc degeneration process. Fibroblasts may act as mesenchymal stem cells at the tissue to which they are injected and they may replace the apoptotic cells...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28600739/association-of-longitudinal-white-matter-degeneration-and-cerebrospinal-fluid-biomarkers-of-neurodegeneration-inflammation-and-alzheimer-s-disease-in-late-middle-aged-adults
#11
Annie M Racine, Andrew P Merluzzi, Nagesh Adluru, Derek Norton, Rebecca L Koscik, Lindsay R Clark, Sara E Berman, Christopher R Nicholas, Sanjay Asthana, Andrew L Alexander, Kaj Blennow, Henrik Zetterberg, Won Hwa Kim, Vikas Singh, Cynthia M Carlsson, Barbara B Bendlin, Sterling C Johnson
Alzheimer's disease (AD) is characterized by substantial neurodegeneration, including both cortical atrophy and loss of underlying white matter fiber tracts. Understanding longitudinal alterations to white matter may provide new insights into trajectories of brain change in both healthy aging and AD, and fluid biomarkers may be particularly useful in this effort. To examine this, 151 late-middle-aged participants enriched with risk for AD with at least one lumbar puncture and two diffusion tensor imaging (DTI) scans were selected for analysis from two large observational and longitudinally followed cohorts...
June 9, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28600230/cytokine-and-chemokine-profile-changes-in-patients-with-lower-segment-lumbar-degenerative-spondylolisthesis
#12
Juraj Sutovsky, Martin Benco, Martina Sutovska, Michaela Kocmalova, Lenka Pappova, Juraj Miklusica, Andrej Frano, Egon Kurca
BACKGROUND: Lumbar degenerative spondylolisthesis (DS) develops as a result of inflammatory and remodeling processes in facet joints (FJs). Several inflammatory cytokines are involved in the osteoarthritic and remodeling changes that occur and in low-back and/or radicular pain, the most prevalent clinical symptom of disease. This study improves knowledge related to the roles that 27 cytokines, chemokines and growth factors play in the pathophysiology of lumbar DS. MATERIAL AND METHODS: Cytokine levels were examined using capture sandwich immunoassay using the Bio-Plex(®) 200 System and the Bio-PlexTM Human Cytokine Standard 27-Plex, Group I (Bio-Rad, Hercules, California, USA) separately in intervertebral discs (IVDs) and FJ bone tissue...
June 6, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28591781/global-spinal-alignment-in-cervical-kyphotic-deformity-the-importance-of-head-position-and-thoracolumbar-alignment-in-the-compensatory-mechanism
#13
Jun Mizutani, Kushagra Verma, Kenji Endo, Ken Ishii, Kuniyoshi Abumi, Mitsuru Yagi, Naobumi Hosogane, Jeffrey Yang, Bobby Tay, Vedat Deviren, Christopher Ames
BACKGROUND: Previous studies have evaluated cervical kyphosis (C-kypho) using cervical curvature or chin-brow vertical angle, but the relationship between C-kypho and global spinal alignment is currently unknown. OBJECTIVE: To elucidate global spinal alignment and compensatory mechanisms in primary symptomatic C-kypho using full-spine radiography. METHODS: In this retrospective multicenter study, symptomatic primary C-kypho patients (Cerv group; n = 103) and adult thoracolumbar deformity patients (TL group; n = 119) were compared...
June 7, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28585998/correlation-of-the-features-of-the-lumbar-multifidus-muscle-with-facet-joint-osteoarthritis
#14
Bo Yu, Kaibiao Jiang, Xinfeng Li, Jidong Zhang, Zude Liu
Facet joint osteoarthritis is considered a consequence of the aging process; however, there is evidence that it may be associated with degenerative changes of other structures. The goal of this study was to investigate the correlation between lumbar multifidus muscle features and facet joint osteoarthritis. This retrospective study included 160 patients who had acute or chronic low back pain and were diagnosed with facet joint osteoarthritis on computed tomography scan. Morphometric parameters, including cross-sectional area, muscle-fat index, and percentage of bilateral multifidus asymmetry at L3-L4, L4-L5, and L5-S1, were evaluated with T2-weighted magnetic resonance imaging...
June 6, 2017: Orthopedics
https://www.readbyqxmd.com/read/28585992/complex-lumbar-spine-fusion-for-an-elderly-patient-under-spinal-anesthesia
#15
Noah L Lessing, Charles C Edwards, Charles Lin, Charles H Brown
Spinal anesthesia for spine surgery is an emerging technique. Because of their lack of physiologic reserve, elderly patients are an appealing population for this technique. Unfortunately, the safe limits of spine surgery using spinal anesthesia for the geriatric population are not well defined. The authors describe an elderly patient with severe spine degeneration who elected for a 5-level lumbar spine fusion with spinal anesthesia. Adequate anesthesia was maintained throughout the procedure, which lasted 3 hours and 24 minutes...
June 6, 2017: Orthopedics
https://www.readbyqxmd.com/read/28583914/association-between-col11a1-rs1337185-and-adamts5-rs162509-gene-polymorphisms-and-lumbar-spine-pathologies-in-chinese-han-population-an-observational-study
#16
Hua Jiang, Qinghua Yang, Jie Jiang, Xinli Zhan, Zengming Xiao
OBJECTIVES: A previous study identified a significant association between several single nucleotide polymorphisms (SNPs) and lumbar disc degeneration (LDD) in Indians. To validate the association between these SNPs and specific lumbar spine pathologies, we performed a case-control study in Chinese Han population. DESIGN: An observational study. SETTING: University Hospital in Nanning, China. PARTICIPANTS: This study included 428 patients with LDD and 400 normal controls...
June 4, 2017: BMJ Open
https://www.readbyqxmd.com/read/28583116/association-between-total-tau-and-brain-atrophy-one-year-after-first-ever-stroke
#17
Hege Ihle-Hansen, Guri Hagberg, Brynjar Fure, Bente Thommessen, Morten W Fagerland, Anne R Øksengård, Knut Engedal, Per Selnes
BACKGROUND: Although the most serious consequence of neuronal ischemia is acute neuronal death, mounting evidence suggests similarities between stroke and neurodegenerative disease. Brain atrophy visualized on structural MRI and pathological cerebrospinal fluid (CSF) concentrations of microtubule-associated protein tau (T-tau) and phosphorylated microtubule-associated protein tau indicate neurofibrillary degeneration. We aimed to explore the association between CSF T-tau and brain atrophy 1 year post-stroke...
June 5, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28582905/a-comparative-study-on-the-mechanical-behavior-of-intervertebral-disc-using-hyperelastic-finite-element-model
#18
Feng Xie, Honghai Zhou, Wenju Zhao, Lixin Huang
BACKGROUND: Lumbar disc herniation may result in excruciating pain due to it being one of the most common diseases related to changes of intervertebral disc (IVD). In order to find a better clinical treatment and prevention scheme for relieving the pain caused by spine degeneration, the mechanical behavior analysis of IVD must be studied. OBJECTIVE: A finite element method (FEM) is used in this study to analyze the mechanical behaviors of healthy and herniated IVD...
May 19, 2017: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/28572152/temporal-evolution-of-disc-in-young-patients-with-low-back-pain-and-stress-reaction-in-lumbar-vertebrae
#19
A Sharma, K Sargar, A Salter
BACKGROUND AND PURPOSE: Although stress-induced bony changes often resolve with conservative treatment, the long-term effects of such mechanical stresses on intervertebral discs have not been studied. We aimed to assess the differences in the temporal evolution of disc in segments of the lumbar spine with and without signs of increased mechanical stresses. MATERIALS AND METHODS: Using MR imaging performed >6 months apart, 2 radiologists evaluated lumbar intervertebral discs for degenerative changes affecting the annulus fibrosus, the nucleus pulposus, and the endplates in 42 patients (22 male, 20 female; mean age, 16...
June 1, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28570641/correlation-study-between-facet-joint-cartilage-and-intervertebral-discs-in-early-lumbar-vertebral-degeneration-using-t2-t2-and-t1%C3%AF-mapping
#20
Yi Zhang, Jianzhong Hu, Chunyue Duan, Ping Hu, Hongbin Lu, Xianjing Peng
Recent advancements in magnetic resonance imaging have allowed for the early detection of biochemical changes in intervertebral discs and articular cartilage. Here, we assessed the feasibility of axial T2, T2* and T1ρ mapping of the lumbar facet joints (LFJs) to determine correlations between cartilage and intervertebral discs (IVDs) in early lumbar vertebral degeneration. We recruited 22 volunteers and examined 202 LFJs and 101 IVDs with morphological (sagittal and axial FSE T2-weighted imaging) and axial biochemical (T2, T2* and T1ρ mapping) sequences using a 3...
2017: PloS One
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