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Arnold chiari malformation

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https://www.readbyqxmd.com/read/29027876/intradural-pathology-and-pathophysiology-associated-with-chiari-i-malformation-in-children-and-adults-with-and-without-syringomyelia
#1
Brian J Dlouhy, Jeffrey D Dawson, Arnold H Menezes
OBJECTIVE The pathophysiology underlying tonsillar herniation and CSF obstruction in Chiari malformation Type I (CM-I) is unclear, and the cause of CM-I-associated syringomyelia is not well understood. A better understanding of this pathophysiology is important for an improved treatment strategy. Therefore, the authors sought to identify, characterize, and examine the intradural pathology and CSF flow pathophysiology in the posterior fossa and at the level of the foramen magnum that occurs in the setting of CM-I...
October 13, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28969239/magnetic-resonance-imaging-in-paediatric-spinal-dysraphism-with-comparative-usefulness-of-various-magnetic-resonance-sequences
#2
Deepakkumar Vinodary Mehta
INTRODUCTION: Spinal dysraphism occurs due to failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. Congenital spinal anomalies may be minimal and asymptomatic like spinal bifida occulta, or severe with marked neurological deficits like Arnold-Chiari malformation or caudal regression syndrome. Magnetic Resonance Imaging (MRI) is the modality of choice to diagnose mild to severe spinal dysraphism. AIM: To diagnose type and extent of clinically suspected spinal anomalies by MRI scan and to compare various sequences for identifying neural tissue and fatty tissue in anomalies...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28934242/twelve-years-of-chiari-like-malformation-and-syringomyelia-scanning-in-cavalier-king-charles-spaniels-in-the-netherlands-towards-a-more-precise-phenotype
#3
Katrien Wijnrocx, Leonie W L Van Bruggen, Wieteke Eggelmeijer, Erik Noorman, Arnold Jacques, Nadine Buys, Steven Janssens, Paul J J Mandigers
Chiari-like malformation (CM), syringomyelia (SM) and middle ear effusion (also called PSOM) are three conditions that frequently occur in Cavalier King Charles Spaniels (CKCS). Both CM and SM are currently screened in the Netherlands prior to breeding and are graded according to the British Veterinary Association's Kennel Club (BVA/KC) scheme. This study evaluated the prevalence and estimated genetic parameter of CM, SM and middle ear effusion from 12 years of screening results. For SM, the classical method using the BVA/KC scheme, was compared with exact measuring of the central canal dilation...
2017: PloS One
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#4
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28694572/pediatric-ventriculoperitoneal-shunts-and-their-complications-an-analysis
#5
Nitin Agarwal, Ram Mohan Shukla, Deepika Agarwal, Kaustubh Gupta, Rohtash Luthra, Jalaj Gupta, Sunny Jain
INTRODUCTION: Ventriculoperitoneal (VP) shunt is the most commonly utilized shunting procedure because of the capacity of the peritoneum to resorb fluid. Initial and subsequent peritoneal catheter placements can be done with relative ease. They are associated with a variety of complications. MATERIALS AND METHODS: The total number of patients operated in the study period was 96. We studied 41 operated patients of VP shunt who had various shunt-related complications and analyzed the predisposing risk factors and spectrum of complications...
July 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28687524/pierpont-syndrome-associated-with-the-p-tyr446cys-missense-mutation-in-tbl1xr1
#6
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, Jude Abadie, Joseph Shieh, Jessica Van Ziffle, Mark Kvale, Hane Lee, Pui-Yan Kwok, Neil Risch, Marta Sabbadini
We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous cleft palate, bilateral cryptorchidism and hydronephrosis. Cranial imaging demonstrated an Arnold Chiari malformation that was also present in his maternal uncle by report...
October 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28686331/neural-tube-defects-in-waardenburg-syndrome-a-case-report-and-review-of-the-literature
#7
Joseph Hart, Kalpana Miriyala
Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28665389/-syringosubarachnoid-shunting-in-treatment-of-syringomyelia-a-literature-review-and-a-clinical-case-report
#8
V S Klimov, Yu S Gulay, A V Evsyukov, G I Moysak
In the article, we describe a clinical case of syringomyelia associated with an Arnold-Chiari type 1 malformation, evaluate the efficacy of syringosubarachnoid shunting, and analyze the literature data of domestic and international researchers involved in investigation and treatment of the pathology. Application of syringosubarachnoid shunting in the described case resulted in a clinical improvement in the form of regression of paresis and hypoesthesia, which demonstrated the efficacy of the shunting technique for correction of the syringomyelia symptoms...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28598915/anesthetic-and-obstetric-management-of-syringomyelia-during-labor-and-delivery-a-case-series-and-systematic-review
#9
REVIEW
Gráinne Patricia Garvey, Vibhangini S Wasade, Kellie E Murphy, Mrinalini Balki
BACKGROUND: Syringomyelia is a rare, slowly progressive neurological condition characterized by the presence of a syrinx within the spinal cord. Consensus regarding the safest mode of delivery and anesthetic management in patients with syringomyelia remains controversial and presents management dilemmas. This study reviews the cases of syringomyelia at our institution and provides a systematic review of the literature to guide decisions regarding labor and delivery management. METHODS: A retrospective review of cases at our hospital from 2002 to 2014 and a systematic review of the literature from 1946 to 2014 were undertaken...
September 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28586935/endoscopic-management-of-arnold-chiari-malformation-type-i-with-or-without-syringomyelia
#10
Shailendra Ratre, Nishtha Yadav, Yad Ram Yadav, Vijay Singh Parihar, Jitin Bajaj, Yatin Kher
Introduction Several different surgical techniques have been used in the treatment of patients with symptomatic Arnold-Chiari malformation type 1 (ACM-1) with or without syrinx. Endoscope-assisted decompression of the posterior fossa has been found to be safe and effective. We report our initial experience of endoscopic management of ACM-I. Material and Methods This was a prospective study of 15 symptomatic patients. Pre- and postoperative clinical status and computed tomography and magnetic resonance imaging findings were recorded...
June 6, 2017: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/28566405/intraspinal-anomalies-in-early-onset-idiopathic-scoliosis
#11
REVIEW
E A C Pereira, M Oxenham, K S Lam
AIMS: In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. PATIENTS AND METHODS: This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities...
June 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28527177/rare-cause-of-type-2-respiratory-failure-arnold-chiari-malformation
#12
Divendu Bhushan
No abstract text is available yet for this article.
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28403928/-prenatal-diagnosis-of-neural-tube-defects-correlation-between-prenatal-and-postnatal-data
#13
L Matuszewski, E Perdriolle-Galet, I Clerc-Urmès, P Bach-Segura, O Klein, J P Masutti, O Morel
OBJECTIVES: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. MATERIALS AND METHODS: A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity...
March 2017: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/28357166/spontaneous-intracranial-hypotension-presenting-as-a-pseudo-chiari-1
#14
Ali S Haider, Suraj Sulhan, Ian T Watson, Dean Leonard, Eliel N Arrey, Umair Khan, Phu Nguyen, Kennith F Layton
Spontaneous intracranial hypotension (SIH) is classified as a decrease in cerebrospinal fluid (CSF) pressure secondary to a CSF leakage and consequent descent of the brain into the foramen magnum. Diagnosing SIH can be difficult due to its overlapping findings with Arnold-Chiari type 1 Malformation (CM1) where the cerebellar tonsils herniate into the foramen magnum. The similarity of both conditions calls for a more reliable imaging technique to localize the CSF leak which could narrow the differential diagnosis and aid in choosing the correct treatment...
February 16, 2017: Curēus
https://www.readbyqxmd.com/read/28321315/prolonged-expiratory-apnoea-with-cyanosis-in-arnold-chiari-ii-malformation
#15
Adnan Zafar, Nahin Hussain
Apnoea associated with Arnold Chiari malformation is a known entity and can be obstructive or central. Differentiating between two types is vital to deciding management pathway and prognosticating disease process.
March 2017: JRSM Open
https://www.readbyqxmd.com/read/28217389/management-of-parturients-in-active-labor-with-arnold-chiari-malformation-tonsillar-herniation-and-syringomyelia
#16
Ramsis F Ghaly, Tatiana Tverdohleb, Kenneth D Candido, Nebojsa Nick Knezevic
BACKGROUND: Arnold-Chiari malformation Type 1 (ACM-1) in parturients is a topic of ongoing discussion between obstetricians and anesthesiologists. The primary unanswered question remains; How should the anesthesia provider proceed with labor analgesia and anesthesia for cesarean section when confronted with an advanced, asymptomatic, or minimally symptomatic case of ACM-1 during labor? CASE DESCRIPTION: A 24-year-old, ASA II, G1P0 full-term parturient presented to Labor and Delivery for vaginal delivery...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28121970/resorbable-mesh-cranioplasty-repair-of-bilateral-cerebrospinal-fluid-leaks-following-pediatric-simultaneous-bilateral-auditory-brainstem-implant-surgery
#17
Giacomo Colletti, Marco Mandalà, Vittorio Colletti, Alberto Deganello, Fabiana Allevi, Liliana Colletti
OBJECTIVE: To present a child with cochlear nerve deficiency (CND) who received simultaneous bilateral simultaneous auditory brainstem implants (BS-ABI) and subsequently presented with bilateral cerebrospinal fluid (CSF) leaks unresponsive to standard treatments. To propose a novel rigid retrosigmoid cranioplasty for treating and preventing CSF leaks in children at high risk for this complication. PATIENT: A 3.5-year-old child with CND, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality, Arnold Chiari malformation, previous treated tracheo-esophageal fistula underwent BS-ABI...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/27981932/g6pd-deficiency-with-arnold-chiari-malformation
#18
Shilpi Verma, Pradeep Kumar Bhatia, Vandana Sharma, Priyanka Sethi, Yogendra Raj Singh
A neonate with glucose-6-phosphate dehydrogenase (G6PD) deficiency and Arnold-Chiari Malformation (ACM) type 2 underwent lumbar meningomyelocele (MMC) repair. Patients with G6PD deficiency are prone to develop haemolysis following any kind of oxidative stress and in ACM, there is a disturbed cranio-spinal pressure relationship. The neonate was managed under general anaesthesia with propofol for induction as well as for maintenance along with fentanyl and oxygen-nitrous mixture.
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27858370/intracranial-hypertension-in-cystinosis-is-a-challenge-experience-in-a-children-s-hospital
#19
Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, Luis Enrique Lara, Álvaro Madrid, Paola Cano, Mireia Del Toro, Gema Ariceta
BACKGROUND: Cystinosis is a rare systemic lysosomal disease affecting mainly the kidney and eye. Ocular involvement in cystinosis is universal being the presence of cystine crystals in the cornea a diagnostic criterion and one of the earliest manifestations of the disease. Neuro-ophthalmologic manifestations are considered a rare and late complication in these patients. The aim of this article is to report the unexpectedly high incidence of intracranial hypertension in children with cystinosis at our centre...
2017: JIMD Reports
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
#20
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
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