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https://www.readbyqxmd.com/read/29143140/impact-of-conventional-medical-therapy-on-bone-mineral-density-and-bone-turnover-in-adult-patients-with-x-linked-hypophosphatemia-a-6-year-prospective-cohort-study
#1
Vikram Vinod Shanbhogue, Stinus Hansen, Niklas Rye Jørgensen, Signe Sparre Beck-Nielsen
X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim of this 6-year prospective study was to determine the impact of conventional medical treatment on areal bone mineral density (aBMD), bone turnover markers (BTMs) and measures of calcium homeostasis in 27 adult patients with XLH, 11 of whom received medical treatment...
November 15, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29142062/the-serine-protease-inhibitor-neuroserpin-is-required-for-normal-synaptic-plasticity-and-regulates-learning-and-social-behavior
#2
Rebecca Reumann, Ricardo Vierk, Lepu Zhou, Frederice Gries, Vanessa Kraus, Julia Mienert, Eva Romswinkel, Fabio Morellini, Isidre Ferrer, Chiara Nicolini, Margaret Fahnestock, Gabriele Rune, Markus Glatzel, Giovanna Galliciotti
The serine protease inhibitor neuroserpin regulates the activity of tissue-type plasminogen activator (tPA) in the nervous system. Neuroserpin expression is particularly prominent at late stages of neuronal development in most regions of the central nervous system (CNS), whereas it is restricted to regions related to learning and memory in the adult brain. The physiological expression pattern of neuroserpin, its high degree of colocalization with tPA within the CNS, together with its dysregulation in neuropsychiatric disorders, suggest a role in formation and refinement of synapses...
December 2017: Learning & Memory
https://www.readbyqxmd.com/read/29137928/camkii%C3%AE-expression-in-a-mouse-model-of-nmdar-hypofunction-schizophrenia-putative-roles-for-igf-1r-and-tlr4
#3
O M Ogundele, C C Lee
Schizophrenia (SCZ) is a neuropsychiatric disorder that is linked to social behavioral deficits and other negative symptoms associated with hippocampal synaptic dysfunction. Synaptic mechanism of schizophrenia is characterized by loss of hippocampal N-Methyl-d-Aspartate Receptor (NMDAR) activity (NMDAR hypofunction) and dendritic spines. Previous studies show that genetic deletion of hippocampal synaptic regulatory calcium-calmodulin dependent kinase II alpha (CaMKIIα) cause synaptic and behavioral defects associated with schizophrenia in mice...
November 11, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/29135610/meralgia-paresthetica-after-spine-surgery-on-the-jackson-table
#4
Nitin Agarwal, Jaydev B Mistry, Preeya V Khandge, David R Hansberry, Ira M Goldstein
Meralgia paresthetica is a non-life-threatening neurological disorder characterized by numbness, tingling, and burning pain over the anterolateral thigh due to impingement of the lateral femoral cutaneous nerve. This disorder has been seen in patients with diabetes mellitus and obesity, but has also been observed in patients after procedures such as posterior spine surgery, iliac crest bone grafts, lumbar disk surgery, hernia repair, appendectomies, and pelvic osteotomies that ultimately lead to compression or damage to the lateral femoral cutaneous nerve...
November 10, 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/29128904/pharmacological-rescue-of-hippocampal-fear-learning-deficits-in-fragile-x-syndrome
#5
Luis A Martinez, Maria Victoria Tejada-Simon
Fragile X Syndrome (FXS) is the leading cause of autism spectrum disorder and intellectual disability and results from loss of Fragile X mental retardation protein (FMRP). In neurons, FMRP controls the translation of synaptic plasticity proteins that are implicated in learning and memory. FMRP also regulates development- and experience-dependent actin cytoskeleton remodeling within dendritic spines through the small Rho GTPase Rac1. Modulation of Rac1 activity is critical during synaptic plasticity as well as learning and memory...
November 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#6
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29121821/morphometric-study-of-the-orientation-of-lumbar-zygapophyseal-joints-in-a-south-indian-population
#7
S P Mohanty, Madhava Pai Kanhangad, Siddarth Kamath, Asha Kamath
PURPOSE: To determine the orientation of lumbar zygapophyseal joints and prevalence of facet tropism (FT) identified by computerized tomographic (CT) scans. METHODS: In a cross-sectional study, 124 CT scans of patients with spinal injuries, seen between 2011and 2015, were retrospectively studied. A total of 566 uninjured motion segments were analysed. The right and left zygapophyseal joint angles (ZJAs) from L1-L2 to L5-S1 were measured on axial sections at uninjured levels...
September 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/29118110/cellular-functions-of-the-autism-risk-factor-ptchd1-in-mice
#8
David Tora, Andrea M Gomez, Jean-Francois Michaud, Patricia T Yam, Frédéric Charron, Peter Scheiffele
The gene PTCHD1 is mutated in patients with autism spectrum disorders (ASD) and intellectual disabilities (ID) and has been hypothesized to contribute to Sonic hedgehog (Shh) signaling and synapse formation. We identify a panel of Ptchd1 interacting proteins that include postsynaptic density proteins and the retromer complex, revealing a link to critical regulators of dendritic and postsynaptic trafficking. Ptchd1 knock-out male mice exhibit cognitive alterations, including defects in a novel object recognition task...
November 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29116166/multiple-behavior-phenotypes-of-the-fragile-x-syndrome-mouse-model-respond-to-chronic-inhibition-of-phosphodiesterase-4d-pde4d
#9
Mark E Gurney, Patricia Cogram, Robert M Deacon, Christopher Rex, Michael Tranfaglia
Fragile-X syndrome (FXS) patients display intellectual disability and autism spectrum disorder due to silencing of the X-linked, fragile-X mental retardation-1 (FMR1) gene. Dysregulation of cAMP metabolism is a consistent finding in patients and in the mouse and fly FXS models. We therefore explored if BPN14770, a prototypic phosphodiesterase-4D negative allosteric modulator (PDE4D-NAM) in early human clinical trials, might provide therapeutic benefit in the mouse FXS model. Daily treatment of adult male fmr1 C57Bl6 knock-out mice with BPN14770 for 14 days reduced hyperarousal, improved social interaction, and improved natural behaviors such as nesting and marble burying as well as dendritic spine morphology...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29114037/reducing-eif4e-eif4g-interactions-restores-the-balance-between-protein-synthesis-and-actin-dynamics-in-fragile-x-syndrome-model-mice
#10
Emanuela Santini, Thu N Huynh, Francesco Longo, So Yeon Koo, Edward Mojica, Laura D'Andrea, Claudia Bagni, Eric Klann
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism spectrum disorder. FXS is caused by silencing of the FMR1 gene, which encodes fragile X mental retardation protein (FMRP), an mRNA-binding protein that represses the translation of its target mRNAs. One mechanism by which FMRP represses translation is through its association with cytoplasmic FMRP-interacting protein 1 (CYFIP1), which subsequently sequesters and inhibits eukaryotic initiation factor 4E (eIF4E). CYFIP1 shuttles between the FMRP-eIF4E complex and the Rac1-Wave regulatory complex, thereby connecting translational regulation to actin dynamics and dendritic spine morphology, which are dysregulated in FXS model mice that lack FMRP...
November 7, 2017: Science Signaling
https://www.readbyqxmd.com/read/29113155/poems-syndrome-presentation-with-progressive-weakness-in-upper-and-lower-limbs-a-case-report
#11
Chuang-Jie Cao, Cheng-Yun Dou, Ke-Hua Zhou, Jin-Bo Liu, Hong Lai
Polyneuropathy, organomegaly, endocrinopathy, M proteins, and skin changes (POEMS) syndrome is a rare variant of plasma cell disorders with multiple systemic manifestations. A 50-year-old female patient presented with progressive weakness in her upper and lower limbs; tingling, numbness and burning in her feet; polyneuropathy (demyelinating in the majority of cases of POEMS syndrome); monoclonal plasma cell disorder (typicallyλ-restricted in cases of POEMS syndrome); sclerotic lesions on the spine and pelvis; organomegaly, including hepatomegaly, splenomegaly and lymphadenopathy; edema; pleural effusion; adrenal, thyroidal, pituitary, gonadal and pancreatic endocrinopathy; skin changes, including hyperpigmentation, dry skin and hypertrichosis; thrombocytosis; pulmonary hypertension; low vitamin B12 and weight loss...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29110219/reduction-and-fixation-of-displaced-u-shaped-sacral-fractures-using-lumbopelvic-fixation-technical-recommendations
#12
Stefan Piltz, Bianka Rubenbauer, Wolfgang Böcker, Heiko Trentzsch
PURPOSE: U-shaped sacral fractures are extremely rare injuries that usually occur as a result of falls from considerable heights. Almost all treatment methods described to date aim solely at stabilizing the fracture but do not contribute to supporting the reduction of such fractures. Using existing implants the purpose of this study is to present a surgical technique that facilitates both the reduction and the stabilization of these injuries. The presented technique was evaluated in a series of three cases...
November 6, 2017: European Spine Journal
https://www.readbyqxmd.com/read/29104533/cell-type-specific-mrna-dysregulation-in-hippocampal-ca1-pyramidal-neurons-of-the-fragile-x-syndrome-mouse-model
#13
Laura Ceolin, Nathalie Bouquier, Jihane Vitre-Boubaker, Stéphanie Rialle, Dany Severac, Emmanuel Valjent, Julie Perroy, Emma Puighermanal
Fragile X syndrome (FXS) is a genetic disorder due to the silencing of the Fmr1 gene, causing intellectual disability, seizures, hyperactivity, and social anxiety. All these symptoms result from the loss of expression of the RNA binding protein fragile X mental retardation protein (FMRP), which alters the neurodevelopmental program to abnormal wiring of specific circuits. Aberrant mRNAs translation associated with the loss of Fmr1 product is widely suspected to be in part the cause of FXS. However, precise gene expression changes involved in this disorder have yet to be defined...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29103806/local-order-within-global-disorder-synaptic-architecture-of-visual-space
#14
Benjamin Scholl, Daniel E Wilson, David Fitzpatrick
Substantial evidence at the subcellular level indicates that the spatial arrangement of synaptic inputs onto dendrites could play a significant role in cortical computations, but how synapses of functionally defined cortical networks are arranged within the dendrites of individual neurons remains unclear. Here we assessed one-dimensional spatial receptive fields of individual dendritic spines within individual layer 2/3 neuron dendrites. Spatial receptive field properties of dendritic spines were strikingly diverse, with no evidence of large-scale topographic organization...
November 1, 2017: Neuron
https://www.readbyqxmd.com/read/29101814/injuries-associated-with-bunk-beds-that-occur-in-jail
#15
Randall T Loder, Jocelyn Cole Young
BACKGROUND: There are many studies of bunk bed injuries, but none specifically addressing those occurring in jails. It was the purpose of this study to investigate the magnitude and patterns of bunk bed injuries occurring in correctional institutions. METHODS: The National Electronic Injury Surveillance System (NEISS) data for the 10 year period 2006 through 2015 due to bunk beds was accessed. Injuries involving bunk beds were identified and the mechanism of injury determined...
October 20, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29101207/the-ferroportin-disease-pathogenesis-diagnosis-and-treatment
#16
Antonello Pietrangelo
The Ferroportin Disease is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of commonest cause of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. In the ferroportin disease, loss-of-function mutations of FPN1 limit but do not impair iron-export in enterocytes, but severely affects iron-transfer in macrophages. This leads to progressive and preferential iron trapping in tissue macrophages, reduced iron release to serum transferrin (i...
November 3, 2017: Haematologica
https://www.readbyqxmd.com/read/29099857/knockout-of-apolipoprotein-e-in-rabbit-promotes-premature-intervertebral-disc-degeneration-a-new-in-vivo-model-for-therapeutic-approaches-of-spinal-disc-disorders
#17
Anja Beierfuß, Hermann Dietrich, Christian Kremser, Monika Hunjadi, Andreas Ritsch, Thomas Rülicke, Claudius Thomé, Demissew Shenegelegn Mern
Intervertebral disc (IVD) degeneration that accelerates the loss of disc structural and functional integrities is recognized as one of the major factors of chronic back pain. Cardiovascular risk factors, such as deficits of apolipoproteins that elevate the levels of cholesterol and triglycerides, are considered critical for the progress of atherosclerosis; notably in the abdominal aorta and its lumbar branching arteries that supply lumbar vertebrae and IVDs. Obstruction of the lumbar arteries by atherosclerosis is presumed to promote lumbar disc degeneration and low back pain...
2017: PloS One
https://www.readbyqxmd.com/read/29097383/mind-the-sr-gap-roles-of-slit-robo-gaps-in-neurons-brains-and-beyond
#18
REVIEW
Bethany Lucas, Jeff Hardin
The Slit-Robo GTPase-activating proteins (srGAPs) were first identified as potential Slit-Robo effectors that influence growth cone guidance. Given their N-terminal F-BAR, central GAP and C-terminal SH3 domains, srGAPs have the potential to affect membrane dynamics, Rho family GTPase activity and other binding partners. Recent research has clarified how srGAP family members act in distinct ways at the cell membrane, and has expanded our understanding of the roles of srGAPs in neuronal and non-neuronal cells...
November 2, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29093791/postoperative-spinal-subdural-lesions-following-lumbar-spine-surgery-prevalence-and-risk-factors
#19
Yukitaka Nagamoto, Shota Takenaka, Hiroyuki Aono
Study Design: Retrospective case-control study. Purpose: To clarify the prevalence and risk factors for spinal subdural lesions (SSDLs) following lumbar spine surgery. Overview of Literature: Because SSDLs, including arachnoid cyst and subdural hematoma, that develop following spinal surgery are seldom symptomatic and require reoperation, there are few reports on these pathologies. No study has addressed the prevalence and risk factors for SSDLs following lumbar spine surgery...
October 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/29090349/bone-disease-in-axial-spondyloarthritis
#20
REVIEW
Margot Van Mechelen, Giulia Rossana Gulino, Kurt de Vlam, Rik Lories
Axial spondyloarthritis is a chronic inflammatory skeletal disorder with an important burden of disease, affecting the spine and sacroiliac joints and typically presenting in young adults. Ankylosing spondylitis, diagnosed by the presence of structural changes to the skeleton, is the prototype of this disease group. Bone disease in axial spondyloarthritis is a complex phenomenon with the coexistence of bone loss and new bone formation, both contributing to the morbidity of the disease, in addition to pain caused by inflammation...
October 31, 2017: Calcified Tissue International
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