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https://www.readbyqxmd.com/read/28322501/multigenerational-pedigree-with-star-syndrome-a-novel-fam58a-variant-and-expansion-of-the-phenotype
#1
Nicole J Boczek, Teresa Kruisselbrink, Margot A Cousin, Patrick R Blackburn, Eric W Klee, Ralitza H Gavrilova, Brendan C Lanpher
STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. Our proband presented with the hallmark features of STAR syndrome, as well as some additional less typical features including tethered cord and hearing loss. The proband's mother and maternal half-sister had similar clinical histories, but had variability in phenotypic severity. Clinical whole exome sequencing revealed a novel pathogenic nonsense variant, c...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28293750/factors-affecting-the-surgical-outcomes-of-tethered-cord-syndrome-in-adults-a-retrospective-study
#2
Anas Abdallah, Erhan Emel, Betül Güler Abdallah, Murad Asiltürk, Özden Erhan Sofuoğlu
This study aimed to find the factors that may affect the surgical outcomes of congenital tethered cord syndrome (TCS) in adults by evaluating the long-term surgical outcomes of 25 consecutive cases. Medical records of 79 TCS cases which underwent surgery in Bakırköy Research and Training Hospital for Neurology, Neurosurgery and Psychiatry (BRSHH), during an 11-year period from 2005 to 2015, were retrospectively reviewed. All adult cases (patient age > 18 years) were selected as the core sample used for this study...
March 14, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28285942/small-molecule-inhibitors-of-psd95-nnos-protein-protein-interactions-suppress-formalin-evoked-fos-protein-expression-and-nociceptive-behavior-in-rats
#3
Lawrence M Carey, Wan-Hung Lee, Tannia Gutierrez, Pushkar M Kulkarni, Ganesh A Thakur, Yvonne Y Lai, Andrea G Hohmann
Excessive activation of NMDA receptor (NMDAR) signaling within the spinal dorsal horn contributes to central sensitization and the induction and maintenance of pathological pain states. However, direct antagonism of NMDARs produces undesirable side effects which limit their clinical use. NMDAR activation produces central sensitization, in part, by initiating a signaling cascade that activates the enzyme neuronal nitric oxide synthase (nNOS) and generates the signaling molecule nitric oxide (NO). NMDAR-mediated activation of nNOS requires a scaffolding protein, postsynaptic density protein 95 kDa (PSD95), which tethers nNOS to NMDARs...
March 7, 2017: Neuroscience
https://www.readbyqxmd.com/read/28279771/recurrent-abortion-and-tethered-cord-syndrome-due-to-anterior-sacral-meningocele-a-report-of-rare-case-with-review-of-literature
#4
Shruti Gupta, Jayesh Chunnilal, Manasi Mehrotra, Anant Mehrotra, Arun K Srivastava, Kuntal K Das
Anterior sacral meningocele is a rare congenital anomaly. The authors here discuss this rare anomaly in a young female who presented with recurrent abortion and later with a huge palpable mass of pelvic origin, measuring 14 x 12 cms. The authors also discuss the various radiological features, associations like presacral dermoid as a part of incomplete Currarino syndrome and the management options available.
March 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28247109/junctional-neural-tube-defect-in-a-newborn-report-of-a-fourth-case
#5
Cameron Schmidt, Vlad Voin, Joe Iwanaga, Fernando Alonso, Rod J Oskouian, Nitsa Topale, R Shane Tubbs, W Jerry Oakes
INTRODUCTION: A discontinuous, functionally disconnected spinal cord is an extremely rare finding, with only three known reports in the literature. Titled junctional neural tube defect (JNTD), this newly reported dysraphism is believed to arise from a developmental error occurring during junctional neurulation, a transitory stage of development marked by the end of primary neurulation and the beginning of secondary neurulation. Herein, we report a newborn case of JNTD. CASE REPORT: We report a newborn boy born with anorectal atresia...
February 28, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28247108/lateral-lipomyelomeningocele-of-the-hemicord-with-split-cord-malformation-type-i-revealed-by-3d-heavily-t2-weighted-mr-imaging
#6
Nobuya Murakami, Takato Morioka, Masako Ichiyama, Ryoko Nakamura, Nobuko Kawamura
BACKGROUND: Lipomyelomeningocele (LMMC) is defined by a low-lying tethered spinal cord protruding posteriorly from the spinal canal and terminating in a lipomatous mass in the subcutaneous meningeal sac. The coexistence of LMMC with split cord malformation (SCM) is rare. CLINICAL PRESENTATION: We report on a patient with laterally protruded LMMC arising from the hemicord of SCM type I. Direct coronal and axial views (instead of sagittal views) of 3D heavily T2-weighted MR imaging (3D-hT2WI) clearly demonstrated the topographical relationship between both of the hemicords, the bony septum, and nerve roots in the right subcutaneous meningeal sac...
February 28, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28223250/dorsal-cervical-spinal-cord-herniation-precipitated-by-kyphosis-deformity-correction-for-spinal-cord-tethering
#7
Robert S Heller, Steven W Hwang, Ron I Riesenburger
INTRODUCTION: Cervical spinal cord herniation is a rare clinical entity. Reported after previous intradural surgery or surgery complicated by durotomy, patients return several months to years later with symptoms of worsening myelopathy. Herein is presented a case of a 51-year-old female patient with spinal cord herniation in the cervical spine after kyphosis deformity correction. CASE DESCRIPTION: A 51-year old female patient presented to the neurosurgery clinic with worsening cervical myelopathy due to cervical spinal cord tethering and adhesions from previous intradural surgery for Chiari malformation...
February 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#8
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28217167/russell-silver-syndrome-associated-with-low-conus-medullaris
#9
Larisa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Ibrahim Alatas, Hakan Bozkus
Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28191659/lumbar-syndrome-a-case-manifesting-as-cutaneous-infantile-hemangiomas-of-the-lower-extremity-perineum-and-gluteal-region-and-a-review-of-published-work
#10
Xia Yu, Jia Zhang, Zhouwei Wu, Ming Liu, Ruhong Chen, Yan Gu, Ming Li, Zhirong Yao
We herein report a rare case of LUMBAR syndrome. A 1-month-old female infant presented with extensive segmental hemangiomas on the left lower extremity, left perineum and gluteal region with ulceration. Bilateral labia minoras were asymmetrical. Both legs were asymmetrical with left leg atrophy, and the intergluteal cleft was deviated. A dark red pustule and a sacrococcygeal dimple could be seen in the lumbosacral region. Lipomyelomeningocele, tethered cord and sacrum dysplasia were noted by magnetic resonance imaging...
February 13, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28178095/clubfoot-and-tethered-cord-syndrome-results-of-treatment-with-the-ponseti-method
#11
Trevor Jackson, Alexander Jones, Nancy Miller, Gaia Georgopoulos
BACKGROUND: The Ponseti technique has demonstrated high success rates worldwide for the treatment of idiopathic clubfoot. The purpose of this study was to determine whether clubfoot associated with tethered cord syndrome (TCS) was more resistant to Ponseti treatment than isolated clubfoot. METHODS: An IRB-approved retrospective cohort study of subjects undergoing Ponseti treatment of clubfoot between 2002 and 2013 was conducted. Subjects with TCS were matched to subjects with isolated clubfoot (1:2) on the basis of laterality, date of birth, sex, and age at presentation...
February 7, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28175439/202%C3%A2-predictors-of-surgical-treatment-and-postoperative-complications-in-the-pediatric-patient-with-isolated-tethered-cord-syndrome
#12
Osama Kashlan, D Andrew Wilkinson, Hal Morgenstern, Cormac O Maher
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28087185/the-filum-terminale-internum-and-externum-a-comprehensive-review
#13
REVIEW
Erfanul Saker, Brandon M Henry, Krzysztof A Tomaszewski, Marios Loukas, Joe Iwanaga, Rod J Oskouian, R Shane Tubbs
INTRODUCTION: The filum terminale has oven been overlooked in the literature probably due to its small size and historical lack of research on its true morphology. However, this structure's roll in the tethered cord syndrome has become more apparent. Therefore, the current comprehensive review seemed timely. METHODS: Using standard search engines, the history, embryology, anatomy, pathology and surgery of the filum terminale were reviewed. CONCLUSIONS: It is only recently that the true anatomy and pathological involvement of the filum terminale in the tethered cord syndrome have been elucidated...
January 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28065810/risk-factors-associated-with-recurrent-urinary-tract-infection-in-neurogenic-bladders-managed-by-clean-intermittent-catheterization
#14
Rajeev Chaudhry, Zarine R Balsara, Ramiro J Madden-Fuentes, John S Wiener, Jonathan C Routh, Patrick Seed, Sherry S Ross
OBJECTIVE: To identify risk factors for recurrent urinary tract infection (UTI) in patients who perform clean intermittent catheterization (CIC). METHODS: A 6-year retrospective chart review of patients with spina bifida or tethered cord who perform clean intermittent catheterization (8 months to 58 years) was conducted. A strict case definition for UTI was applied, and per-subject UTI events, demographic, and clinical data were abstracted. Data were compared between groups defined by no or infrequent UTI (≤1...
January 5, 2017: Urology
https://www.readbyqxmd.com/read/28065719/the-currarino-triad-what-pediatric-surgeons-need-to-know
#15
Amr Abdelhamid AbouZeid, Shaimaa Abdelsattar Mohammad, Mohammad Abolfotoh, Ahmed Bassiouny Radwan, Mohamed Mohamed ElSayed Ismail, Tarek Ahmed Hassan
PURPOSE: We report our experience in managing a group of patients with Currarino syndrome, highlighting diagnostic challenges, surgical techniques, in addition to a review of current neurosurgical options. PATIENTS AND METHODS: The study included patients with Currarino syndrome who presented to our pediatric surgery department during the period 2010 through 2016. The 'sacral scimitar' in plain X-ray provided the clue for the diagnosis; while MRI examination was essential to define the nature of the presacral mass and associated spinal anomalies...
December 27, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28059708/impact-of-mr-neurography-in-patients-with-chronic-cauda-equina-syndrome-presenting-as-chronic-pelvic-pain-and-dysfunction
#16
J R Petrasic, A Chhabra, K M Scott
BACKGROUND AND PURPOSE: Chronic cauda equina syndrome, defined as persistent damage of the cauda equina nerve roots within the spinal canal can be a challenging diagnosis with varied presentations. MR neurography imaging is more commonly being used to evaluate the lumbosacral spine of patients suspected of having subacute or chronic cauda equina syndrome. Our aim was to evaluate the impact of lumbosacral plexus MR neurography in the diagnostic thinking and therapeutic management of patients presenting with chronic pelvic pain and dysfunction and suspected chronic cauda equina syndrome...
November 10, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28058831/peptide-tethered-hydrogel-scaffold-promotes-recovery-from-spinal-cord-transection-via-synergism-with-mesenchymal-stem-cells
#17
Li-Ming Li, Min Han, Xin-Chi Jiang, Xian-Zhen Yin, Fu Chen, Tian-Yuan Zhang, Hao Ren, Ji-Wen Zhang, Ting-Jun Hou, Zhong Chen, Hong-Wei Ou-Yang, Yasuhiko Tabata, You-Qing Shen, Jian-Qing Gao
Spinal cord injury (SCI) is one of the most devastating injuries. Treatment strategies for SCI are required to overcome comprehensive issues. Implantation of biomaterial scaffolds and stem cells has been demonstrated to be a promising strategy. However, a comprehensive recovery effect is difficult to achieve. In the comprehensive treatment process, the specific roles of the implanted scaffolds and of stem cells in combined strategy are usually neglected. In this study, a peptide-modified scaffold is developed based on hyaluronic acid and an adhesive peptide PPFLMLLKGSTR...
February 1, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28056283/-copy-number-variants-analysis-in-whole-genome-of-patients-with-lipoma-tethered-cord-syndrome
#18
B Z Tao, X G Yu, C Cheng, R Zong, Z Y Zhao, L K Wang, A J Shang
Objective: To explore the abnormality of chromosomes of patients with lipoma tethered cord syndrome and the probable association between Copy Number Variations (CNV) and lipoma tethered cord syndrome. Methods: By using the Agilent SurePrint G3 Human CGH 8×60K Microarray Kit, we performed genome-wide screening for CNV on 11 patients with lipoma tethered cord syndrome adopted by the Neurosurgery Department of Chinese PLA General Hospital and their healthy parents from March 2015 to May 2015. We analyze CNVs got by the kit against the gene databases...
January 3, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28018799/caudal-duplication-syndrome-the-vital-role-of-a-multidisciplinary-approach-and-staged-correction
#19
Inbal Samuk, Marc Levitt, Elena Dlugy, Dragan Kravarusic, David Ben-Meir, Gustavo Rajz, Osnat Konen, Enrique Freud
Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering of the cord. We report this exceptional case of caudal duplication syndrome with special emphasis on surgical strategy and approach combining all disciplines involved...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/27942921/multiple-neural-tube-defects-a-rare-combination-of-limited-dorsal-myeloschisis-diplomyelia-with-dorsal-bony-spur-sacral-meningocoele-syringohydromyelia-and-tethered-cord
#20
Ramdurg Shashank R, Dubey Shubhi, Kadeli Vishal
Multiple neural tube defects are relatively rare. They account for less than 1% reported neural tube defects. Cases of limited dorsal myeloschisis (LDM) and diplomyelia (two cords in single sac without intervening bony or fibrous septae) with dorsal bony spur are also a rare event. Here, the authors report a rare case of neonate with thoracic LDM, diplomyelia with dorsal bony spur, sacral meningocoele with syringohydromyelia, and low-lying tethered cord. The child also had a ventricular septal defect (VSD) and bilateral rocker bottom feet...
December 9, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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