Anesthetic Management of Parturients With Arnold Chiari Malformation-I: A Multicenter Retrospective Study

(Int J Obstet Anesth. 2019;37:52–56) In patients with Arnold Chiari malformations (ACM) the cerebellum herniates through the foramen magnum and displaces the lower pons and medulla. In addition, the flow of cerebrospinal fluid from the fourth ventricle is impaired, and dynamic or static herniation of brain tissue can occur. In ∼25% of patients with ACM, the pressure gradient generated by this condition can lead to the development of a syringomyelia, which is an abnormal cavitation within the spinal cord. Type 1 Arnold Chiari malformations (ACM-1) is the most common of 4 categories of ACM, and women with ACM-I are usually not diagnosed until adulthood. Some of these patients are asymptomatic while others may manifest symptoms such as headache, ataxia, and sensorimotor impairments of the extremities.
Source: Obstetric Anesthesia Digest - Category: Anesthesiology Tags: Mechanisms, Equipment, Hazards Source Type: research

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We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causing 3-methylglutaconic aciduria type III with optic atrophy.Methods: Retrospective case series.Results: Three siblings (2 male, 1 female) among 6 children in a consanguineous Afghani family developed decreased vision from early childhood. Both parents and all extended family members were unaffected. All 3 affected siblings suffered from severe visual impairment ranging from visual acuities of 20/150 to counting fingers. All had spastic lower extremity weakness and ataxia. Two of the three affected siblings also had a history of sei...
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Authors: Patel P, Konala VM, Adapa S, Gayam V, Sahasranam P, Bose S, Golez CD, Naramala S Abstract Cyanide is notoriously known to the public for more than a century now as a weapon of mass destruction (Zyklon B gas - hydrogen cyanide used by Nazis), an agent for chemical warfare during World War I (hydrogen cyanide) and very infamous "Suicide Pill" used in the past by military and espionage organizations during World War II (potassium cyanide). During the modern industrial era, cyanide poisoning is commonly associated with the industrial exposure and domestic fires. But there is little awareness about po...
Source: Journal of Population Therapeutics and Clinical Pharmacology - Category: Drugs & Pharmacology Tags: J Popul Ther Clin Pharmacol Source Type: research
AbstractGenetic brain channelopathies result from inherited or de novo mutations of genes encoding ion channel subunits within the central nervous system. Most neurological channelopathies arise in childhood with paroxysmal or episodic symptoms, likely because of a transient impairment of homeostatic mechanisms regulating membrane excitability, and the prototypical expression of this impairment is epilepsy. Migraine, episodic ataxia and alternating hemiplegia can also occur, as well as chronic phenotypes, such as spinocerebellar ataxias, intellectual disability and autism spectrum disorder. Voltage-gated and ligand-gated c...
Source: Neurological Sciences - Category: Neurology Source Type: research
ConclusionVestibular exams could be an auxiliary tool to investigate SCAs, besides a precise clinical approach and, particularly, molecular genetic tests.
Source: Neurophysiologie Clinique - Category: Neuroscience Source Type: research
In this study, we used gene interaction networks to investigate common gene signatures associated with the above phenotypes. In total, 19 candidate genes were used for making an interaction network which further revealed 39 associated genes (includingKCNA1,SCN2A,CACNA1A,KCNM4,KCNO3,SCN1B andCACNB4) implicated in paroxysmal neurological disorders development and progression. The meta-regression analysis showed the strongest association ofSCN2A with genes involved in schizophrenia and neurodevelopmental disorders. Importantly, our analysis showedKCNMA1 as a common gene signature with a link to epilepsy, movement disorders an...
Source: Neurological Sciences - Category: Neurology Source Type: research
Here, we describe the first case of familial hemiplegic migraine type 1 (FHM1) resulting from a T666M mutation in the CACNA1A gene of a Chinese individual. A 54-year-old female patient demonstrated extensive clinical manifestations, including transient paropsia, hemianesthesia, logaphasia, hemiplegia, migraine, fever, impaired consciousness, and progressive cerebellar ataxia. At admission, neurological examination showed a fever of 38.6°C, coma, bilateral pupillary constriction, left-sided deviation of both eyes, meningeal irritation, and bilateral positive Chaddock's sign. Brain magnetic resonance imaging (MRI) displa...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Publication date: Available online 11 November 2019Source: Gynecologic Oncology ReportsAuthor(s): Yingao Zhang, Megan S. Grant, Wesley H. Stepp, Leslie H. ClarkAbstractThe development of brain and central nervous system (CNS) metastases from primary gynecologic cancers is an extremely uncommon but deadly process. Through this retrospective case series of patients treated at a single institution from 2004 to 2018, we aim to explore potential clinical patterns of this phenomenon with respect to primary tumor type, histology, and symptomatology.A total of 42 patients were identified with CNS metastases, with 24 patients havin...
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
Alternating hemiplegia of childhood (AHC) is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia in either side of the body and other paroxysmal events such as seizures, dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction, primarily due to de novo pathogenic mutations in the ATP1A3 gene. The burden of neuro morbidities is significant and includes epilepsy, ADHD, behavioral difficulties, motor, cognitive, adaptive, and learning impairment, ataxia, movement disorders, and migraine.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Inder Puri, Govind Singh, Rajendra Kumar Acharya, Divya GoswamiAnnals of Indian Academy of Neurology 2019 22(4):373-376 New disability law called “Rights of Persons with Disabilities Act 2016” has been acted in 2016. The United Nations' Convention for Rights of Persons with Disabilities is the sole of this new act. Of the total 21 categories, three new neurological legal disability categories such as chronic neurological conditions, Parkinson disease (PD), and multiple sclerosis have been notified first time in the new act. The new guidelines have been notified in the year 2018 for evaluation and certifica...
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research
To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine.
Source: BMC Neurology - Category: Neurology Authors: Tags: Case report Source Type: research
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