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Spine Disorders

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https://www.readbyqxmd.com/read/28541473/relationship-between-synaptic-ampar-and-spine-dynamics-impairments-in-the-fxs-mouse
#1
Anand Suresh, Anna Dunaevsky
Structural dynamics of dendritic spines are important for memory and learning and are impaired in neurodevelopmental disorders such as fragile X syndrome. Spine dynamics are regulated by activity-dependent mechanisms that involve modulation of AMPA receptors (AMPAR); however, the relationship between AMPAR and spine dynamics in vivo and how these are altered in FXS mouse model is not known. Here, we tracked AMPAR and spines over multiple days in vivo in the cortex and found that dendritic spines in the fmr1 KO mouse were denser, smaller, had higher turnover rates and contained less sGluA2 compared to littermate controls...
May 24, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28540658/overexpression-of-the-dyrk1a-gene-dual-specificity-tyrosine-phosphorylation-regulated-kinase-1a-induces-alterations-of-the-serotoninergic-and-dopaminergic-processing-in-murine-brain-tissues
#2
Jacqueline London, Claude Rouch, Linh Chi Bui, Elodie Assayag, Benoit Souchet, Fabrice Daubigney, Hind Medjaoui, Serge Luquet, Christophe Magnan, Jean Maurice Delabar, Julien Dairou, Nathalie Janel
Trisomy 21 (T21) or Down syndrome (DS) is the most common genetic disorder associated with intellectual disability and affects around 5 million persons worldwide. Neuroanatomical phenotypes associated with T21 include slight reduction of brain size and weight, abnormalities in several brain areas including spines dysgenesis, dendritic morphogenesis, and early neuroanatomical characteristics of Alzheimer's disease. Monoamine neurotransmitters are involved in dendrites development, functioning of synapses, memory consolidation, and their levels measured in the cerebrospinal fluid, blood, or brain areas that are modified in individuals with T21...
May 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28538370/radiographic-anatomical-relationship-between-spinous-process-and-pedicle-in-thoracolumbar-and-lumbar-spine
#3
Xingang Cui, Guodong Wang
Pedicle screws are widely used in spinal surgeries, but it remains technically demanding to place. There are numerous studies on the anatomy of pedicle; however, there is very little insight on the relationship between the pedicle and the spinous process, which is an important part of the spinal posterior column.The aim of the study was to investigate the radiographic anatomical relationship between spinous processes and pedicles in the thoracolumbar and lumbar spine, in order to reveal a novel entrance point for pedicle screw insertion...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28538252/concurrent-paraspinous-myopathy-and-myasthenia-gravis
#4
Alissa E Romano, Zaid Al-Qudah, Henry J Kaminski, Bashar Katirji, Karim Salame
Paraspinous myopathy is a rare neuromuscular disorder characterized by selective involvement of the cervical, thoracic, or lumbar muscles. Leading clinical features include a bent spine or dropped head (antecollis). In myasthenia gravis (MG), patients may have camptocormia secondary to neuromuscular junction dysfunction of the paraspinal muscles, and this condition usually responds to acetylcholinesterase inhibitors or immunosuppressive treatments. However, concomitant MG and paraspinous myopathy with histologic and electrophysiologic evidence of myopathic changes of the paraspinal muscles has only been reported twice in the literature...
June 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28536800/causes-and-preventive-measures-of-symptomatic-spinal-epidural-haematoma-after-spinal-surgery
#5
Xiao-Jun Zeng, Wei Wang, Zhou Zhao, Ming Li
STUDY DESIGN: This was a retrospective study to evaluate clinical characteristics of patients who developed symptomatic spinal epidural haematoma (SSEH) after spinal surgery. OBJECTIVE: The objective was to determine clinical parameters associated with the development of SSEH after spinal surgery, and to discuss clinical management and possible preventive measures. Although the incidence rate of SSEH is low, the neurological sequelae are devastating. There are limited reports which identify risk factors for SSEH because of the rarity of the condition...
May 24, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28528779/atypical-articular-presentations-in-indian-children-with-rheumatic-fever
#6
Euden Bhutia, Dinesh Kumar, Mohan Kundal, Sunil Kishore, Atul Juneja
BACKGROUND: The objective of the study was to describe the clinical characteristics of atypical articular presentations during the initial outbreak and recurrence in patients with acute rheumatic fever (ARF) in the paediatric age group. METHODS: This was a retrospective, observational study conducted between January 2012 and December 2014 on all suspected cases of acute rheumatic fever (ARF) fulfilling either WHO 2004 or Australian guidelines with atypical articular manifestations ie, presence of at least one of the following features: duration of symptoms more than three weeks; monoarthritis/arthralgia; involvement of small joints of hand and feet and/or cervical spine and/or hip joint; and, not responding to salicylates in one week...
April 24, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28525493/influence-of-myelography-and-postmyelographic-ct-on-therapeutic-decisions-in-degenerative-diseases-of-the-cervical-spine
#7
Thomas Westermaier, Christina Doerr, Christian Stetter, Thomas Linsenmann, Stefan Koehler, Joerg Eriskat, Laszlo Solymosi, Ralf-Ingo Ernestus
STUDY DESIGN: A retrospective analysis of clinical records and radiologic imaging by 3 independent reviewers to assess the indication for surgical treatment with and without myelography and postmyelographic computed tomography (MCT). OBJECTIVE: To evaluate whether myelography and MCT obtained in addition to magnetic resonance imaging (MRI) influence therapeutic decisions in degenerative diseases of the cervical spine. SUMMARY OF BACKGROUND DATA: MRI has become the standard examination in spinal diseases...
June 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28524815/anchoring-high-concentrations-of-syngap-at-postsynaptic-densities-via-liquid-liquid-phase-separation
#8
Menglong Zeng, Guanhua Bai, Mingjie Zhang
SynGAP, encoded by SYNGAP1, is a Ras/Rap GTPase activator specifically expressed in the nervous systems. SynGAP is one of the most abundant proteins in the postsynaptic densities (PSDs) of excitatory synapses and acts as a critical synaptic activity brake by tuning down synaptic GTPase activities. Mutations of SYNGAP1 have been frequently linked to brain disorders including intellectual disability, autisms, and seizure. SynGAP has been shown to undergo fast dispersions from synapses in response to stimulations, a strategy that neurons use to control the specific activities of the enzyme within the tiny, semi-open compartments in dendritic spines...
May 19, 2017: Small GTPases
https://www.readbyqxmd.com/read/28511523/achondroplasia-with-polydactyly-a-case-report
#9
Caroline Frank, Sameeya Shariff, Muddepalle Pavani, Balasubramanian Karthika, Sridhar Thathekalva
An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". This case also presents a unique feature of polydactyly. Polydactyly is a manifestation in clinical medicine because it can serve as an indicator for a plethora of congenital anamolies...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28507881/development-and-validation-of-the-idi-a-short-self-rating-disability-instrument-for-low-back-pain-disorders
#10
Cornelia Rolli Salathé, Achim Elfering, Alexander Tuschel, Michael Ogon, H Michael Mayer, Norbert Boos
STUDY DESIGN: Cross-sectional and longitudinal validation study. OBJECTIVE: Development and validation of a short, reliable, and valid questionnaire for the assessment of low back pain-related disability. METHODS: The iDI was created in a stepwise procedure: (1) its development was based on the literature and theoretical consideration; (2) outcome data were collected and evaluated in a pilot study; (3) final validations were performed based on an international multicenter spine surgery outcome study including 514 patients; (4) the iDI was programmed for a tablet computer (iPad) and tested for its clinical practicability...
April 2017: Global Spine Journal
https://www.readbyqxmd.com/read/28500272/probing-the-lithium-response-pathway-in-hipscs-implicates-the-phosphoregulatory-set-point-for-a-cytoskeletal-modulator-in-bipolar-pathogenesis
#11
Brian T D Tobe, Andrew M Crain, Alicia M Winquist, Barbara Calabrese, Hiroko Makihara, Wen-Ning Zhao, Jasmin Lalonde, Haruko Nakamura, Glenn Konopaske, Michelle Sidor, Cameron D Pernia, Naoya Yamashita, Moyuka Wada, Yuuka Inoue, Fumio Nakamura, Steven D Sheridan, Ryan W Logan, Michael Brandel, Dongmei Wu, Joshua Hunsberger, Laurel Dorsett, Cordulla Duerr, Ranor C B Basa, Michael J McCarthy, Namrata D Udeshi, Philipp Mertins, Steven A Carr, Guy A Rouleau, Lina Mastrangelo, Jianxue Li, Gustavo J Gutierrez, Laurence M Brill, Nikolaos Venizelos, Guang Chen, Jeffrey S Nye, Husseini Manji, Jeffrey H Price, Colleen A McClung, Hagop S Akiskal, Martin Alda, De-Maw M Chuang, Joseph T Coyle, Yang Liu, Yang D Teng, Toshio Ohshima, Katsuhiko Mikoshiba, Richard L Sidman, Shelley Halpain, Stephen J Haggarty, Yoshio Goshima, Evan Y Snyder
The molecular pathogenesis of bipolar disorder (BPD) is poorly understood. Using human-induced pluripotent stem cells (hiPSCs) to unravel such mechanisms in polygenic diseases is generally challenging. However, hiPSCs from BPD patients responsive to lithium offered unique opportunities to discern lithium's target and hence gain molecular insight into BPD. By profiling the proteomics of BDP-hiPSC-derived neurons, we found that lithium alters the phosphorylation state of collapsin response mediator protein-2 (CRMP2)...
May 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28499364/clinical-classification-in-low-back-pain-best-evidence-diagnostic-rules-based-on-systematic-reviews
#12
Tom Petersen, Mark Laslett, Carsten Juhl
BACKGROUND: Clinical examination findings are used in primary care to give an initial diagnosis to patients with low back pain and related leg symptoms. The purpose of this study was to develop best evidence Clinical Diagnostic Rules (CDR] for the identification of the most common patho-anatomical disorders in the lumbar spine; i.e. intervertebral discs, sacroiliac joints, facet joints, bone, muscles, nerve roots, muscles, peripheral nerve tissue, and central nervous system sensitization...
May 12, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28493277/bone-mineral-density-in-complete-androgen-insensitivity-syndrome-and-the-timing-of-gonadectomy
#13
Thomas F J King, Winnie Z M Wat, Sarah M Creighton, Gerard S Conway
OBJECTIVE: Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between age of gonadectomy and BMD in women with CAIS. DESIGN: Retrospective analysis of pre- and post-gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. PATIENTS: One hundred and thirteen women with CAIS...
May 10, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28489651/the-impact-of-cervical-musculoskeletal-disorders-on-uk-consultant-plastic-surgeons-can-we-reduce-morbidity-with-applied-ergonomics
#14
Yvette Godwin, Christopher R Macdonald, Sarbjit Kaur, Li Zhelin, Christopher Baber
BACKGROUND: Based on anecdotal and observational evidence, we hypothesized that the prevalence of cervical musculoskeletal disorder (C-MSD) would be high among plastic surgeons. A questionnaire review was undertaken to test this hypothesis. Ergonomic assessment was undertaken to assess causal factors of C-MSD. METHOD: An anonymous questionnaire recording demographics, physical symptoms and behavioral responses to C-MSD was distributed to UK Plastic Surgery consultants...
June 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28488276/cntnap2-is-a-direct-foxp2-target-in-vitro-and-in-vivo-in-zebra-finches-complex-regulation-by-age-and-activity
#15
Iris Adam, Ezequiel Mendoza, Ursula Kobalz, Sandra Wohlgemuth, Constance Scharff
Mutations of FOXP2 are associated with altered brain structure, including the striatal part of the basal ganglia, and cause a severe speech and language disorder. Songbirds serve as a tractable neurobiological model for speech and language research. Experimental downregulation of FoxP2 in zebra finch Area X, a nucleus of the striatal song control circuitry, affects synaptic transmission and spine densities. It also renders song learning and production inaccurate and imprecise, similar to the speech impairment of patients carrying FOXP2 mutations...
May 10, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28488085/novel-loss-of-function-mutation-in-krit1-ccm1-is-associated-with-distinctly-progressive-cerebral-and-spinal-cavernous-malformations-after-radiochemotherapy-for-intracranial-malignant-germ-cell-tumor
#16
Alexandra Russo, Marie Astrid Neu, Johanna Theruvath, Bettina Kron, Arthur Wingerter, Silla Hey-Koch, Yasemin Tanyildizi, Joerg Faber
PURPOSE: Cerebrospinal cavernous malformations (CCMs) are vascular lesions characterized by dilated and leaky capillary caverns. CCMs can cause seizures, focal neurological deficits or acute intracranial hemorrhage; however, most patients are asymptomatic. CCMs occur either sporadically or as a familial autosomal-dominant disorder. We present a clinical and molecular study of a patient with distinctive cerebral and spinal cavernous malformations following radiochemotherapy for a malignant brain tumor...
May 9, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28485653/vestibular-rehabilitation-in-benign-paroxysmal-positional-vertigo-reality-or-fiction
#17
Federica Bressi, Paola Vella, Manuele Casale, Antonio Moffa, Lorenzo Sabatino, Michele Antonio Lopez, Francesco Carinci, Rocco Papalia, Fabrizio Salvinelli, Silvia Sterzi
The objective of this article is to systematically review the evidence on the effectiveness of vestibular rehabilitation (VR) in patients with benign paroxysmal positional vertigo (BPPV). Relevant published studies about VR in BPPV were searched in PubMed, Google Scholar and Ovid using various keywords. We included trials that were available in the English language and did not apply publication year or publication status restrictions. Studies based on the VR in other peripheral and/or central balance disorders are excluded...
May 1, 2017: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/28483687/femoral-and-lumbar-fractures-during-rehabilitation-for-a-traumatic-spinal-cord-injury-in-osteogenesis-imperfecta-a-case-presentation
#18
Brendon S Ross, David Ripley, Anna M Ho, Leslie Rydberg
Osteogenesis imperfecta (OI) is one of the most common inherited bone disorders. These individuals are high-risk for developing fractures during their lifetime secondary to bone fragility. This case presents a female with type I OI involved in a high speed motor vehicle accident resulting in a traumatic spinal cord injury (SCI) and paraplegia. Inpatient rehabilitation was complicated by fractures of the femur and lumbar spine which impacted her level of independence upon discharge to prevent additional fractures and maintain safety...
May 5, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28476644/autoantibody-mediated-diseases-of-the-cns-structure-dysfunction-and-therapy
#19
REVIEW
James Varley, Jennifer Taylor, Sarosh R Irani
The field of neuronal autoantibody associated diseases of the central nervous system has expanded dramatically in the last few years. The range of identified neuronal and glial antibody targets has led to the accurate classification of a number of syndromes which each associate with characteristic clinical features. These diseases are especially important due to their frequent response to immunotherapies. Antibodies against the N-methyl, d-aspartate receptor (NMDAR) and leucine-rich glioma inactivated 1 (LGI1) are the commonest autoantibodies known in patients with autoimmune forms of encephalitis...
May 3, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28472303/the-effect-of-whole-body-vibration-training-on-bone-and-muscle-function-in-children-with-osteogenesis-imperfecta
#20
Wolfgang Högler, Janis Scott, Nick Bishop, Paul Arundel, Peter Nightingale, M Zulf Mughal, Raja Padidela, Nick Shaw, Nicola Crabtree
Context: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. Objective: To assess the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI. Design: Randomised controlled pilot trial. Setting: Tertiary paediatric research centre. Participants: Twenty-four children (5-16 years) with OI types 1,4 and limited mobility (CHAQ score ≥0...
May 3, 2017: Journal of Clinical Endocrinology and Metabolism
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