Results 61 to 70 of about 64,777 (300)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Nonconvulsive Status Epilepticus: A Case Presentation with Long Term Personality Disorders

Archives of Epilepsy, 2015
Nonconvulsive status epilepticus is a clinical condition accompanied by defects at different levels of consciousness and original electrographic findings.
Nilden KAHYAOĞLU, Özlem ÖNDER, Rifat Reha BİLGİN   +2 more
doaj   +1 more source

Intensive care management of status epilepticus

Journal of Neuroanaesthesiology and Critical Care, 2016
Status epilepticus (SE) is a life-threatening neurological emergency that requires prompt diagnosis and treatment. SE may be classified into convulsive and non-convulsive types, based on the presence of rhythmic jerking of the extremities.
Nidhi Gupta
doaj   +1 more source

Clinical profile and outcome of children admitted with status epileptics in picu of a developing country [PDF]

, 2013
Status epilepticus (SE) is a common, life-threatening neurologic disorder. The exact incidence is not known. The frequency of occurrence of status epilepticus is 17-23 per 100, 000 persons per year, with the higher incidences occurring in developing ...
Ahmed, Khalid, Bhatti, Faria, Haque, Anwa rul Haque, Kaleem Jafr, Sidra, Rafique, Arshad   +4 more
core   +1 more source

Posterior Reversible Encephalopathy Syndrome and Azathioprine [PDF]

, 2019
Posterior reversible encephalopathy syndrome (PRES) is a rare syndrome that presents with neurological manifestations, often associated with arterial hypertension.
Corte-Real, A, Vilas-Boas, S
core   +2 more sources

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Refractory Status Epilepticus in Children; Risk Factors, Management and Early Outcome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2008
Introduction: Refractory status epilepticus is a life-threatening disease in children wherein seizure movements don't response to first line anti convulsion drugs. This study reviewed risk factors, management and early outcome of children with refractory
AH Jafari Roohi, M Barzegar
doaj  

The Role of Midazolam on Status Epilepticus: Systematic Review

Jurnal Kedokteran Diponegoro, 2023
Background: Status epilepticus is a condition that results either in the failure of the mechanisms responsible for stopping seizures or in initiating mechanisms that cause seizures to be abnormally prolonged.
Azizah Amimathul Firdha, Vania Ayu Puspamaniar, Abduloh Machin   +2 more
doaj   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source