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Chiari I

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https://www.readbyqxmd.com/read/28223250/dorsal-cervical-spinal-cord-herniation-precipitated-by-kyphosis-deformity-correction-for-spinal-cord-tethering
#1
Robert S Heller, Steven W Hwang, Ron I Riesenburger
INTRODUCTION: Cervical spinal cord herniation (SCH) is a rare clinical entity. Reported following prior 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 with SCH in the cervical spine following kyphosis deformity correction CASE DESCRIPTION: A 51-year old female presented to the Neurosurgery clinic with worsening cervical myelopathy due to cervical spinal cord tethering and adhesions from prior intradural surgery for Chiari malformation...
February 18, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#2
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/28217391/chiari-i-malformation-and-delivery
#3
Paolo A Bolognese, Roger W Kula, Stephen T Onesti
No abstract text is available yet for this article.
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28192262/intra-operative-ultrasonography-for-definition-of-less-invasive-surgical-technique-in-patients-with-chiari-type-i-malformation
#4
Roger Schmidt Brock, Mario Augusto Taricco, Matheus Fernandes de Oliveira, Marcelo de Lima Oliveira, Manoel Jacobsen Teixeira, Edson Bor-Seng-Shu
INTRODUCTION: Chiari malformation Type I (CM) is the main congenital malformation disease of the craniovertebral junction. The ideal surgical treatment is still controversial. Invasive procedures inside CSF space and associated with dural repair are considered the gold standard, however a less invasive surgery with isolated bone decompression without dural opening may be possible in selected patients.. Our study evaluates the efficacy of intra-operative CSF flow measurement with ultrasonography (USG) as a determining parameter in the selection of these patients...
February 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28185017/intradiploic-pseudomeningocele-and-ossified-occipitocervical-pseudomeningocele-after-decompressive-surgery-for-chiari-i-malformation-report-of-two-cases-and-literature-review
#5
Arthur R Kurzbuch, Shailendra Magdum, Jayaratnam Jayamohan
Intradiploic cerebrospinal fluid (CSF) collections are rare findings. The authors describe two pediatric patients with iatrogenically induced occipital CSF collections after decompressive surgery for Chiari I malformation. The first patient presents a large occipital intradiploic pseudomeningocele and the second patient an intradiploic pseudomeningocele merging with an ossified occipitocervical pseudomeningocele. Though being rarities after decompression for Chiari I malformation, intradiploic fluid collection and ossified pseudomeningocele should be considered if patients represent with aggravating presurgical or new symptoms...
February 9, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28181025/surgical-management-of-chiari-i-malformation-based-on-different-cerebrospinal-fluid-flow-patterns-at-the-cranial-vertebral-junction
#6
Tao Fan, HaiJun Zhao, XinGang Zhao, Cong Liang, YinQian Wang, QiFei Gai
Chiari I malformation has been shown to present different cerebrospinal fluid (CSF) flow patterns at the cranial-vertebral junction (CVJ). Posterior fossa decompression is the first-line treatment for symptomatic Chiari I malformation. However, there is still controversy on the indication and selection of decompression procedures. This research aims to investigate the clinical indications, outcomes, and complications of the decompression procedures as alternative treatments for Chiari I malformation, based on the different CSF flow patterns at the cranial-vertebral junction...
February 9, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28175566/351%C3%A2-do-rehabilitation-therapies-affect-patient-outcomes-after-chiari-i-decompression-surgery
#7
Grace M Deyo, Danielle N Ryan, Stephen P Sales, Lance S Governale
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28171875/applicability-of-cone-beam-computed-tomography-to-the-assessment-of-the-vocal-tract-before-and-after-vocal-exercises-in-normal-subjects
#8
Elisângela Zacanti Garcia, Hélio Kiitiro Yamashita, Davi Sousa Garcia, Marina Martins Pereira Padovani, Renata Rangel Azevedo, Brasília Maria Chiari
BACKGROUND/AIMS: Cone beam computed tomography (CBCT), which represents an alternative to traditional computed tomography and magnetic resonance imaging, may be a useful instrument to study vocal tract physiology related to vocal exercises. This study aims to evaluate the applicability of CBCT to the assessment of variations in the vocal tract of healthy individuals before and after vocal exercises. METHODS: Voice recordings and CBCT images before and after vocal exercises performed by 3 speech-language pathologists without vocal complaints were collected and compared...
February 8, 2017: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/28156254/population-based-description-of-familial-clustering-of-chiari-malformation-type-i
#9
Diana Abbott, Douglas Brockmeyer, Deborah W Neklason, Craig Teerlink, Lisa A Cannon-Albright
OBJECTIVE A population-based genealogical resource with linked medical data was used to define the observed familial clustering of Chiari malformation Type I (CM-I). METHODS All patients with CM-I were identified from the 2 largest health care providers in Utah; those patients with linked genealogical data were used to test hypotheses regarding familial clustering. Relative risks (RRs) in first-, second-, and third-degree relatives were estimated using internal cohort-specific CM-I rates; the Genealogical Index of Familiality (GIF) test was used to test for an excess of relationships between all patients with CM-I compared with the expected distribution of relationships for matched control sets randomly selected from the resource...
February 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28122014/use-of-morphometric-mapping-to-characterise-symptomatic-chiari-like-malformation-secondary-syringomyelia-and-associated-brachycephaly-in-the-cavalier-king-charles-spaniel
#10
Susan P Knowler, Chloe Cross, Sandra Griffiths, Angus K McFadyen, Jelena Jovanovik, Anna Tauro, Zoha Kibar, Colin J Driver, Roberto M La Ragione, Clare Rusbridge
OBJECTIVES: To characterise the symptomatic phenotype of Chiari-like malformation (CM), secondary syringomyelia (SM) and brachycephaly in the Cavalier King Charles Spaniel using morphometric measurements on mid-sagittal Magnetic Resonance images (MRI) of the brain and craniocervical junction. METHODS: This retrospective study, based on a previous quantitative analysis in the Griffon Bruxellois (GB), used 24 measurements taken on 130 T1-weighted MRI of hindbrain and cervical region...
2017: PloS One
https://www.readbyqxmd.com/read/28121988/craniometric-analysis-of-the-hindbrain-and-craniocervical-junction-of-chihuahua-affenpinscher-and-cavalier-king-charles-spaniel-dogs-with-and-without-syringomyelia-secondary-to-chiari-like-malformation
#11
Susan P Knowler, Anna-Mariam Kiviranta, Angus K McFadyen, Tarja S Jokinen, Roberto M La Ragione, Clare Rusbridge
OBJECTIVES: To characterize and compare the phenotypic variables of the hindbrain and craniocervical junction associated with syringomyelia (SM) in the Chihuahua, Affenpinscher and Cavalier King Charles Spaniel (CKCS). METHOD: Analysis of 273 T1-weighted mid-sagittal DICOM sequences of the hindbrain and craniocervical junction from 99 Chihuahuas, 42 Affenpinschers and 132 CKCSs. The study compared 22 morphometric features (11 lines, eight angles and three ratios) of dogs with and without SM using refined techniques based on previous studies of the Griffon Bruxellois (GB) using Discriminant Function Analysis and ANOVA with post-hoc corrections...
2017: PloS One
https://www.readbyqxmd.com/read/28121938/comparison-of-posterior-fossa-decompression-with-and-without-duraplasty-for-the-surgical-treatment-of-chiari-malformation-type-i-in-adult-patients-a-retrospective-analysis-of-103-patients
#12
Junchen Chen, Yongning Li, Tianyu Wang, Jun Gao, Jincheng Xu, Runlong Lai, Dianhui Tan
Chiari malformation type I (CM-I) is a congenital neurosurgical disease about the herniation of cerebellar tonsil through the foramen magnum. A variety of surgical techniques for CM-I have been used, and there is a controversy whether to use posterior fossa decompression with duraplasty (PFDD) or posterior fossa decompression without duraplasty (PFD) in CM-I patients. Here, we compared the clinical results and effectiveness of PFDD and PFD in adult patients with CM-I. The cases of 103 adult CM-I patients who underwent posterior fossa decompression with or without duraplasty from 2008 to 2014 were reviewed retrospectively...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28097251/management-of-progressive-late-onset-scoliosis-with-magnetic-growth-rod-insertion-leading-to-improvement-of-neural-anomalies-a-case-report
#13
Amit Zaveri, Valerio Pace, Dimpu Bhagawati, Vijay Rajamani, Thillainayagam Muthukumar, Hilali Noordeen
BACKGROUND: To present the first known reported case of late onset idiopathic scoliosis with concomitant neural anomalies, treated with sequential distraction using magnetic growth rod, had significant improvement in both cranio-cervical and intraspinal anomaly. METHODS: A caucasian, growing female child (at the age of ten) presented with moderately progressive late onset right thoracic scoliosis. She was found to have Chiari type I malformation and a cervicothoracic syrinx on routine pre-operative MRI scanning...
December 2016: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/28052881/headache-outcomes-in-children-undergoing-foramen-magnum-decompression-for-chiari-i-malformation
#14
Saba Raza-Knight, Kshitij Mankad, Prab Prabhakar, Dominic Thompson
OBJECTIVE: A common symptom of Chiari I malformation (CIM) is headache, which is diagnosed using non-validated criteria from the International Headache Society (IHS). CIM-associated headaches should resolve following neurosurgical treatment of the malformation by foramen magnum decompression (FMD). We aimed to validate the IHS criteria and determine (1) the efficacy of FMD in treating headache and (2) whether duraplasty confers an advantage over simple bony decompression in the treatment of this symptom...
January 4, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#15
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/28018469/type-i-chiari-malformation-presenting-orthostatic-syncope-who-treated-with-decompressive-surgery
#16
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical symptoms associated with CM-I, including suboccipital headache, weakness in the upper extremities, facial numbness, loss of temperature sensation, ataxia, diplopia, dysarthria, dysphagia, vomiting, vertigo, nystagmus, and tinnitus...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27991732/acute-myeloid-leukemia-associated-dnmt3a-p-arg882his-mutation-in-a-patient-with-tatton-brown-rahman-overgrowth-syndrome-as-a-constitutional-mutation
#17
Rika Kosaki, Hiroshi Terashima, Masaya Kubota, Kenjiro Kosaki
DNA methylation plays a critical role in both embryonic development and tumorigenesis and is mediated through various DNA methyltransferases. Constitutional mutations in the de novo DNA methyltransferase DNMT3A cause a recently identified Tatton-Brown-Rahman overgrowth syndrome (TBRS). Somatically acquired mutations in DNMT3A are causally associated with acute myeloid leukemia (AML), and p.Arg882His represents the most prevalent hotspot. So far, no patients with TBRS have been reported to have subsequently developed AML...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27989412/a-retrospective-analysis-of-the-utility-of-head-computed-tomography-and-or-magnetic-resonance-imaging-in-the-management-of-benign-macrocrania
#18
M Edward Haws, Luke Linscott, Cameron Thomas, Emily Orscheln, Rupa Radhakrishnan, Beth Kline-Fath
OBJECTIVE: To assess whether computed tomography (CT), magnetic resonance imaging (MRI), and neurosurgical evaluations altered the diagnosis or management of children diagnosed with benign macrocrania of infancy by ultrasonography (US). STUDY DESIGN: We queried our radiology database to identify patients diagnosed with benign macrocrania of infancy by US between 2006 and 2013. Medical records of those with follow-up CT/MRI were reviewed to determine clinical/neurologic status and whether or not CT/MRI imaging resulted in diagnosis of communicating hydrocephalus or required neurosurgical intervention...
December 15, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27921214/external-validity-of-the-chiari-severity-index-and-outcomes-among-pediatric-chiari-i-patients-treated-with-intra-or-extra-dural-decompression
#19
Jared M Pisapia, Maxwell B Merkow, Danielle Brewington, Rosemary E Henn, Leslie N Sutton, Phillip B Storm, Gregory G Heuer
INTRODUCTION: Chiari malformation type-1 (CM-1) may be treated by intradural (ID) or extradural (ED) posterior fossa decompression, although the optimal approach is debated. The Chiari Severity Index (CSI) is a pre-operative metric to predict patient-defined improvement after CM-1 surgery. In this study, we evaluate the results of ID versus ED decompression and assess the external validity of the CSI. METHODS: We performed a retrospective cohort study of pediatric CM-1 patients undergoing decompression at a single academic children's hospital...
December 5, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27894943/acquired-chiari-malformation-and-syringomyelia-secondary-to-space-occupying-lesions-a-systematic-review
#20
REVIEW
Justin Wang, Naif M Alotaibi, Nardin Samuel, George M Ibrahim, Aria Fallah, Michael D Cusimano
BACKGROUND: Acquired Chiari malformations (ACM) and associated syringomyelia secondary to space-occupying lesions can cause neurologic deficits independent of or in combination with the offending mass. Although type I Chiari malformations are traditionally treated with posterior fossa decompression, optimal surgical management of ACM and associated syringomyelia remains unclear. The purpose of this study is to review the current literature surrounding the management of ACM. METHODS: A systematic review was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines...
November 25, 2016: World Neurosurgery
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