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Chiari I

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27873200/clickable-polymeric-coating-for-glycan-microarrays
#9
Caterina Zilio, Laura Sola, Marina Cretich, Anna Bernardi, Marcella Chiari
The interaction of carbohydrates with a variety of biological targets, including antibodies, proteins, viruses, and cells are of utmost importance in many aspects of biology. Glycan microarrays are increasingly used to determine the binding specificity of glycan-binding proteins. In this study, a novel microarray support is reported for the fabrication of glycan arrays that combines the higher sensitivity of a layered Si-SiO2 surface with a novel polymeric coating easily modifiable by subsequent click reaction...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27863152/direct-numerical-simulation-of-transitional-hydrodynamics-of-the-cerebrospinal-fluid-in-chiari-i-malformation-the-role-of-cranio-vertebral-junction
#10
Kartik Jain, Geir Ringstad, Per-Kristian Eide, Kent-André Mardal
Obstruction to the cerebrospinal fluid (CSF) outflow caused by the herniation of cerebellar tonsils as a result of Chiari malformation type I leads to altered CSF hydrodynamics. This contribution explores the minutest characteristics of the CSF hydrodynamics in cervical subarachnoid spaces (SAS) of a healthy subject and two Chiari patients by performing highly resolved direct numerical simulation. The Lattice Boltzmann method is used for the simulations due to its scalability on modern supercomputers that allow us to simulate up to  ∼ 10(9) cells while resolving the Kolmogorov microscales...
November 10, 2016: International Journal for Numerical Methods in Biomedical Engineering
https://www.readbyqxmd.com/read/27857798/not-all-cases-of-nyctalopia-are-benign-unusual-and-serendipitous-presentation-of-arnold-chiari-type-1-malformation-at-a-pediatric-tertiary-care-center
#11
Kailash Chandra Patra, Abhijeet Prakash Kirtane
The Arnold-Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27834622/trends-in-surgical-treatment-of-chiari-malformation-type-i-in-the-united-states
#12
D Andrew Wilkinson, Kyle Johnson, Hugh J L Garton, Karin M Muraszko, Cormac O Maher
OBJECTIVE The goal of this analysis was to define temporal and geographic trends in the surgical treatment of Chiari malformation Type I (CM-I) in a large, privately insured health care network. METHODS The authors examined de-identified insurance claims data from a large, privately insured health care network of over 58 million beneficiaries throughout the United States for the period between 2001 and 2014 for all patients undergoing surgical treatment of CM-I. Using a combination of International Classification of Diseases (ICD) diagnosis codes and Current Procedural Terminology (CPT) codes, the authors identified CM-I and associated diagnoses and procedures over a 14-year period, highlighting temporal and geographic trends in the performance of CM-I decompression (CMD) surgery as well as commonly associated procedures...
November 11, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27826646/diagnostic-value-of-neuro-ophthalmological-signs-in-cases-of-chiari-i-malformation
#13
Inessa Bekerman, Tal Sigal, Itzhak Kimiagar, Zina Evy Almer, Michael Vaiman
INTRODUCTION: Our purpose was to evaluate the diagnostic value of measuring diameters of optic nerve sheath (ONSD), presence/absence of papilledema, tortuosity of the optic nerve, flattening of the posterior sclera, and intraocular protrusion of the prelaminar optic nerve for intracranial pressure assessment in cases of Chiari I malformation. METHODS: In a retrospective study, MRI data of 37 consecutive pediatric patients with Chiari malformation and data of 400 patients without intracranial pathology were compared and analyzed...
December 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27816775/adding-expansile-duraplasty-to-posterior-fossa-decompression-may-restore-cervical-range-of-motion-in-grade-3-chiari-i-malformation-patients
#14
Adem Yilmaz, Kamran Urgun, Salah G Aoun, Ibrahim Colak, Ilhan Yilmaz, Kadir Altas, Murat Musluman
No abstract text is available yet for this article.
November 2, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27815143/chiari-i-malformation-as-part-of-the-floating-harbor-syndrome
#15
Arthur R Kurzbuch, Shailendra Magdum
We report the first case of a patient diagnosed with Floating-Harbor syndrome (FHS) and Chiari I malformation. The 3-year-old girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. Diagnosis of Chiari I malformation may be difficult in FHS patients who present with communication problems. Clinicians following patients with FHS should be aware of a possible relation between FHS and Chiari I malformation.
December 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27813534/splanchnic-vein-thrombosis-in-myeloproliferative-neoplasms-risk-factors-for-recurrences-in-a-cohort-of-181-patients
#16
V De Stefano, A M Vannucchi, M Ruggeri, F Cervantes, A Alvarez-Larrán, A Iurlo, M L Randi, L Pieri, E Rossi, P Guglielmelli, S Betti, E Elli, M C Finazzi, G Finazzi, E Zetterberg, N Vianelli, G Gaidano, I Nichele, D Cattaneo, M Palova, M H Ellis, E Cacciola, A Tieghi, J C Hernandez-Boluda, E Pungolino, G Specchia, D Rapezzi, A Forcina, C Musolino, A Carobbio, M Griesshammer, T Barbui
We retrospectively studied 181 patients with polycythaemia vera (n=67), essential thrombocythaemia (n=67) or primary myelofibrosis (n=47), who presented a first episode of splanchnic vein thrombosis (SVT). Budd-Chiari syndrome (BCS) and portal vein thrombosis were diagnosed in 31 (17.1%) and 109 (60.3%) patients, respectively; isolated thrombosis of the mesenteric or splenic veins was detected in 18 and 23 cases, respectively. After this index event, the patients were followed for 735 patient years (pt-years) and experienced 31 recurrences corresponding to an incidence rate of 4...
November 4, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27798986/chiari-related-hydrocephalus-assessment-of-clinical-risk-factors-in-a-cohort-of-297-consecutive-patients
#17
Jian Guan, Jay Riva-Cambrin, Douglas L Brockmeyer
OBJECTIVE Patients treated for Chiari I malformation (CM-I) with posterior fossa decompression (PFD) may occasionally and unpredictably develop postoperative hydrocephalus. The clinical risk factors predictive of this type of Chiari-related hydrocephalus (CRH) are unknown. The authors' objective was to evaluate their experience to identify risk factors that may predict which of these patients undergoing PFD will develop CRH after surgery. METHODS The authors performed a retrospective clinical chart review of all patients who underwent PFD surgery and duraplasty for CM-I at the Primary Children's Hospital in Utah from June 1, 2005, through May 31, 2015...
November 2016: Neurosurgical Focus
https://www.readbyqxmd.com/read/27767330/prospective-comparison-of-mr-with-diffusion-weighted-imaging-endoscopic-ultrasound-mdct-and-positron-emission-tomography-ct-in-the-pre-operative-staging-of-oesophageal-cancer-results-from-a-pilot-study
#18
Francesco Giganti, Alessandro Ambrosi, Maria C Petrone, Carla Canevari, Damiano Chiari, Annalaura Salerno, Paolo G Arcidiacono, Roberto Nicoletti, Luca Albarello, Elena Mazza, Francesca Gallivanone, Luigi Gianolli, Elena Orsenigo, Antonio Esposito, Carlo Staudacher, Alessandro Del Maschio, Francesco De Cobelli
OBJECTIVE: To compare the diagnostic performance of MR and diffusion-weighted imaging (DWI), multidetector CT, endoscopic ultrasonography (EUS) and (18)F-FDG (fluorine-18 fludeoxyglucose) positron emission tomography CT (PET-CT) in the pre-operative locoregional staging of oesophageal cancer. METHODS: 18 patients with oesophageal or Siewert I tumour (9 directly treated with surgery and 9 addressed to chemo-/radiotherapy before) underwent 1.5-T MR and DWI, 64-channel multidetector CT, EUS and PET-CT before (n = 18) and also after neoadjuvant treatment (n = 9)...
December 2016: British Journal of Radiology
https://www.readbyqxmd.com/read/27757567/traumatic-atlanto-occipital-dislocation-in-children-a-case-based-update-on-clinical-characteristics-management-and-outcome
#19
Thomas Beez, Jennifer Brown
BACKGROUND: Atlanto-occipital dislocation (AOD) is a rare but severe sequela of high energy trauma. Children are at increased risk, due to their immature spine and biomechanical characteristics. LITERATURE REVIEW: The prevailing mechanism of injury is motor vehicle collision as passenger. AOD commonly presents with cardiorespiratory arrest, spinal cord injury or cranial nerve deficits. Concomitant injuries, such as traumatic brain injury, are frequently encountered...
October 18, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27751919/racial-socioeconomic-and-gender-disparities-in-the-presentation-treatment-and-outcomes-of-adult-chiari-i-malformations
#20
Max O Krucoff, Steven Cook, Owoicho Adogwa, Jessica Moreno, Siyun Yang, Jichun Xie, Alexander O Firempong, Nandan Lad, Carlos A Bagley
OBJECT: To examine the role of race, gender, and socioeconomics on presentations and outcomes of adult Chiari 1 malformations. METHODS: The charts of 638 adult patients with Chiari 1 malformations were reviewed, and 287 patients were included. Race, gender, insurance status, symptoms, depth of cerebellar tonsillar herniation, and presence of syringomyelia were examined as covariates in multivariate logistic regression models to identify independent predictors of presentation and outcome...
October 14, 2016: World Neurosurgery
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